nsv4366922
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,201
- Publication(s):Zarrei et al. 2019
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: 1262 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1262 SVs from 86 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4366922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nsv4366922 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,061 | 302,261 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15613881 | copy number loss | 1-0707-005 | SNP array | Genotyping | 21 |
nssv15614429 | copy number gain | 1-0761-005 | SNP array | Genotyping | 24 |
nssv15627695 | copy number loss | 1-0533-003 | SNP array | Genotyping | 17 |
nssv15632486 | copy number loss | 10-0007-002 | SNP array | Genotyping | 26 |
nssv15640366 | copy number gain | 14-0152-001 | SNP array | Genotyping | 22 |
nssv15640642 | copy number loss | 14-0349-003 | SNP array | Genotyping | 20 |
nssv15642700 | copy number loss | 14-0356-004 | SNP array | Genotyping | 24 |
nssv15647401 | copy number gain | 2-1239-003 | SNP array | Genotyping | 15 |
nssv15647683 | copy number gain | 2-0318-002 | SNP array | Genotyping | 21 |
nssv15647943 | copy number gain | 2-1314-003 | SNP array | Genotyping | 18 |
nssv15649243 | copy number gain | 2-1266-002 | SNP array | Genotyping | 24 |
nssv15650011 | copy number loss | 2-1425-001 | SNP array | Genotyping | 27 |
nssv15650131 | copy number gain | 2-1295-002 | SNP array | Genotyping | 16 |
nssv15650626 | copy number loss | 2-1359-002 | SNP array | Genotyping | 14 |
nssv15652641 | copy number loss | 2-1565-003 | SNP array | Genotyping | 21 |
nssv15658675 | copy number gain | 3-0544-000 | SNP array | Genotyping | 17 |
nssv15672844 | copy number loss | 9-0007-003 | SNP array | Genotyping | 20 |
nssv15674265 | copy number loss | 9-0025-001 | SNP array | Genotyping | 23 |
nssv15674904 | copy number loss | 9-0046-003 | SNP array | Genotyping | 21 |
nssv15702648 | copy number loss | 198406 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15613881 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15614429 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15627695 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15632486 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15640366 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15640642 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15642700 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15647401 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15647683 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15647943 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15649243 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15650011 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15650131 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15650626 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15652641 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15658675 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15672844 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15674265 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15674904 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15702648 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,261 |
nssv15613881 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15614429 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15627695 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15632486 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15640366 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15640642 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15642700 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15647401 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15647683 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15647943 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15649243 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15650011 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15650131 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15650626 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15652641 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15658675 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15672844 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15674265 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15674904 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 | ||
nssv15702648 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,261 |