nsv6627470
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,387
- 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: 144 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627470 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nsv6627470 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302142 | duplication | OSC5735 | SNP array | Probe signal intensity | 9 |
| nssv18302730 | duplication | OSC5939 | SNP array | Probe signal intensity | 7 |
| nssv18302790 | duplication | OSC5987 | SNP array | Probe signal intensity | nssv18303379, nssv18303644 |
| nssv18303991 | duplication | OSC6187 | SNP array | Probe signal intensity | 10 |
| nssv18304383 | duplication | OSC6280 | SNP array | Probe signal intensity | 7 |
| nssv18304578 | duplication | OSC6186 | SNP array | Probe signal intensity | 7 |
| nssv18305837 | duplication | OSC6443 | SNP array | Probe signal intensity | 11 |
| nssv18305968 | deletion | OSC6306 | SNP array | Probe signal intensity | 12 |
| nssv18306777 | duplication | OSC6667 | SNP array | Probe signal intensity | 5 |
| nssv18307400 | duplication | OSC6649 | SNP array | Probe signal intensity | 10 |
| nssv18309867 | duplication | OSC7091 | SNP array | Probe signal intensity | 7 |
| nssv18310213 | deletion | OSC7263 | SNP array | Probe signal intensity | 8 |
| nssv18310282 | duplication | OSC7150 | SNP array | Probe signal intensity | 10 |
| nssv18312175 | duplication | OSC7417 | SNP array | Probe signal intensity | 8 |
| nssv18313253 | duplication | OSC7733 | SNP array | Probe signal intensity | 9 |
| nssv18314945 | duplication | OSC8053 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302142 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18302730 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18302790 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18303991 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18304383 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18304578 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18305837 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18305968 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)del | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18306777 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18307400 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18309867 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18310213 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)del | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18310282 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18312175 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18313253 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18314945 | Remapped | Perfect | NT_187682.1:g.(?_5 0017)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,017 | 62,403 |
| nssv18302142 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18302730 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18302790 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18303991 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18304383 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18304578 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18305837 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18305968 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18306777 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18307400 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18309867 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18310213 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18310282 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18312175 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18313253 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 | ||
| nssv18314945 | Submitted genomic | NC_000022.10:g.(?_ 42523678)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,678 | 42,536,064 |