nsv6628163
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:487,963
- 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: 2283 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2294 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628163 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nsv6628163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284828 | duplication | OSC2566 | SNP array | Probe signal intensity | 5 |
| nssv18285085 | duplication | OSC2516 | SNP array | Probe signal intensity | 5 |
| nssv18285425 | duplication | OSC2752 | SNP array | Probe signal intensity | 7 |
| nssv18287623 | duplication | OSC3023 | SNP array | Probe signal intensity | 5 |
| nssv18289225 | duplication | OSC3479 | SNP array | Probe signal intensity | 6 |
| nssv18290294 | duplication | OSC3582 | SNP array | Probe signal intensity | 7 |
| nssv18290427 | duplication | OSC3680 | SNP array | Probe signal intensity | nssv18291017, nssv18290686 |
| nssv18295230 | duplication | OSC4468 | SNP array | Probe signal intensity | 5 |
| nssv18295364 | duplication | OSC4565 | SNP array | Probe signal intensity | 8 |
| nssv18298153 | duplication | OSC5081 | SNP array | Probe signal intensity | 7 |
| nssv18300617 | duplication | OSC5566 | SNP array | Probe signal intensity | 12 |
| nssv18319929 | duplication | OSC0959 | SNP array | Probe signal intensity | nssv18319931, nssv18319928, nssv18319930 |
| nssv18320262 | duplication | OSC0939 | SNP array | Probe signal intensity | 7 |
| nssv18320802 | duplication | OSC0930 | SNP array | Probe signal intensity | 9 |
| nssv18321921 | duplication | OSC1279 | SNP array | Probe signal intensity | 13 |
| nssv18324252 | duplication | OSC1626 | SNP array | Probe signal intensity | nssv18323973, nssv18323974, nssv18323975 |
| nssv18325239 | duplication | OSC1863 | SNP array | Probe signal intensity | 5 |
| nssv18325762 | duplication | OSC1841 | SNP array | Probe signal intensity | 6 |
| nssv18326140 | duplication | OSC2020 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284828 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18285085 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18285425 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18287623 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18289225 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18290294 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18290427 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18295230 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18295364 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18298153 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18300617 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18319929 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18320262 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18320802 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18321921 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18324252 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18325239 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18325762 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18326140 | Remapped | Pass | NC_000002.12:g.(?_ 87177878)_(8766584 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,177,878 | 87,665,840 |
| nssv18284828 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18285085 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18285425 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18287623 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18289225 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18290294 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18290427 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18295230 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18295364 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18298153 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18300617 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18319929 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18320262 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18320802 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18321921 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18324252 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18325239 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18325762 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 | ||
| nssv18326140 | Submitted genomic | NC_000002.11:g.(?_ 87405001)_(8796535 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 87,405,001 | 87,965,359 |