nsv6632092
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,709
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 595 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nsv6632092 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nsv6632092 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nsv6632092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 44,935 | 62,643 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281637 | duplication | OSC0210 | SNP array | Probe signal intensity | 5 |
| nssv18282031 | duplication | OSC2106 | SNP array | Probe signal intensity | 6 |
| nssv18282520 | duplication | OSC0228 | SNP array | Probe signal intensity | 5 |
| nssv18282521 | duplication | OSC2228 | SNP array | Probe signal intensity | 5 |
| nssv18284722 | duplication | OSC2492 | SNP array | Probe signal intensity | 7 |
| nssv18286249 | duplication | OSC2683 | SNP array | Probe signal intensity | 7 |
| nssv18286433 | duplication | OSC0290 | SNP array | Probe signal intensity | 8 |
| nssv18293588 | duplication | OSC0432 | SNP array | Probe signal intensity | nssv18293243, nssv18293241, nssv18293011 |
| nssv18297994 | duplication | OSC4969 | SNP array | Probe signal intensity | nssv18297993, nssv18297750, nssv18298327 |
| nssv18298564 | duplication | OSC4909 | SNP array | Probe signal intensity | 10 |
| nssv18299243 | duplication | OSC5204 | SNP array | Probe signal intensity | 10 |
| nssv18299291 | duplication | OSC5241 | SNP array | Probe signal intensity | 6 |
| nssv18299302 | duplication | OSC5250 | SNP array | Probe signal intensity | 6 |
| nssv18299360 | duplication | OSC5296 | SNP array | Probe signal intensity | 7 |
| nssv18299915 | duplication | OSC5235 | SNP array | Probe signal intensity | 9 |
| nssv18301283 | duplication | OSC5573 | SNP array | Probe signal intensity | 8 |
| nssv18319991 | duplication | OSC1005 | SNP array | Probe signal intensity | |
| nssv18320646 | duplication | OSC1037 | SNP array | Probe signal intensity | nssv18320025, nssv18320401, nssv18320402 |
| nssv18322012 | duplication | OSC1149 | SNP array | Probe signal intensity | 6 |
| nssv18322431 | duplication | OSC1440 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281637 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18282031 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18282520 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18282521 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18284722 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18286249 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18286433 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18293588 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18297994 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18298564 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18299243 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18299291 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18299302 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18299360 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18299915 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18301283 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18319991 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18320646 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18322012 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18322431 | Remapped | Perfect | NT_187558.1:g.(?_1 034)_(18742_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1,034 | 18,742 |
| nssv18281637 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18282031 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18282520 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18282521 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18284722 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18286249 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18286433 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18293588 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18297994 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18298564 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18299243 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18299291 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18299302 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18299360 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18299915 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18301283 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18319991 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18320646 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18322012 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18322431 | Remapped | Perfect | NT_187653.1:g.(?_3 7256)_(54964_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 37,256 | 54,964 |
| nssv18281637 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18282031 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18282520 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18282521 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18284722 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18286249 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18286433 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18293588 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18297994 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18298564 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18299243 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18299291 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18299302 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18299360 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18299915 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18301283 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18319991 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18320646 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18322012 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18322431 | Remapped | Perfect | NC_000007.14:g.(?_ 44935)_(62643_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 62,643 |
| nssv18281637 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18282031 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18282520 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18282521 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18284722 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18286249 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18286433 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18293588 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18297994 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18298564 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18299243 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18299291 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18299302 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18299360 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18299915 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18301283 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18319991 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18320646 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18322012 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 | ||
| nssv18322431 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(62643_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 62,643 |