nsv4381848
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,346
- 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: 683 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4381848 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nsv4381848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15628958 | copy number loss | 1-0006-004 | SNP array | Genotyping | 25 |
nssv15656653 | copy number loss | 3-0101-001 | SNP array | Genotyping | 25 |
nssv15657919 | copy number loss | 3-0439-000 | SNP array | Genotyping | 20 |
nssv15675020 | copy number loss | 209351 | SNP array | Genotyping | 35 |
nssv15681389 | copy number loss | OCD103-1584 | SNP array | Genotyping | 21 |
nssv15683395 | copy number loss | OCD121-S_1741 | SNP array | Genotyping | 19 |
nssv15684623 | copy number loss | OCD151-RH-1295 | SNP array | Genotyping | 21 |
nssv15685434 | copy number loss | OCD12-S_896222 | SNP array | Genotyping | 30 |
nssv15686154 | copy number loss | OCD2-B_MA-1288 | SNP array | Genotyping | 21 |
nssv15687776 | copy number loss | OCD19-S_896371 | SNP array | Genotyping | 17 |
nssv15688115 | copy number loss | 209355 | SNP array | Genotyping | 28 |
nssv15689287 | copy number loss | OCD10-S_896172 | SNP array | Genotyping | 22 |
nssv15689776 | copy number loss | OCD1149-8961133 | SNP array | Genotyping | 18 |
nssv15692304 | copy number loss | OCD55-0625-9391-1 | SNP array | Genotyping | 23 |
nssv15697758 | copy number loss | 187362 | SNP array | Genotyping | 16 |
nssv15698302 | copy number loss | 139979 | SNP array | Genotyping | 26 |
nssv15700388 | copy number loss | 205663 | SNP array | Genotyping | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15628958 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15656653 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15657919 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15675020 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15681389 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15683395 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15684623 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15685434 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15686154 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15687776 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15688115 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15689287 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15689776 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15692304 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15697758 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15698302 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15700388 | Remapped | Perfect | NC_000001.11:g.(?_ 169246806)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,806 | 169,286,151 |
nssv15628958 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15656653 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15657919 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15675020 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15681389 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15683395 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15684623 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15685434 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15686154 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15687776 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15688115 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15689287 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15689776 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15692304 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15697758 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15698302 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 | ||
nssv15700388 | Submitted genomic | NC_000001.10:g.(?_ 169216044)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,044 | 169,255,389 |