nsv4371281
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:148,257
- 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: 1931 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1931 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371281 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nsv4371281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617676 | copy number gain | 1-0153-002 | SNP array | Genotyping | 25 |
| nssv15630770 | copy number gain | 1-0619-003 | SNP array | Genotyping | 25 |
| nssv15634289 | copy number gain | 11-0006-003 | SNP array | Genotyping | 24 |
| nssv15635787 | copy number gain | 12-4058-003 | SNP array | Genotyping | 23 |
| nssv15637060 | copy number gain | 14-0024-004 | SNP array | Genotyping | 25 |
| nssv15642603 | copy number gain | 15-1133-001 | SNP array | Genotyping | 20 |
| nssv15644731 | copy number gain | 16-1001-002 | SNP array | Genotyping | 27 |
| nssv15665110 | copy number gain | 14AG81 | SNP array | Genotyping | 16 |
| nssv15677921 | copy number gain | 225978 | SNP array | Genotyping | 16 |
| nssv15678558 | copy number gain | 206761 | SNP array | Genotyping | 16 |
| nssv15685155 | copy number gain | OCD165-8961163 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617676 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15630770 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15634289 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15635787 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15637060 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15642603 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15644731 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15665110 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15677921 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15678558 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15685155 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953750 9_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,537,509 |
| nssv15617676 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15630770 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15634289 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15635787 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15637060 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15642603 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15644731 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15665110 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15677921 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15678558 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 | ||
| nssv15685155 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939502 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,395,028 |