nsv4376907
- 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:36,459
- 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: 257 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nsv4376907 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616805 | copy number loss | 1-0807-003 | SNP array | Genotyping | 22 |
| nssv15623130 | copy number loss | 1-1055-003 | SNP array | Genotyping | 19 |
| nssv15624004 | copy number loss | 1-0278-003 | SNP array | Genotyping | 27 |
| nssv15624360 | copy number loss | 1-0278-005 | SNP array | Genotyping | 19 |
| nssv15627365 | copy number loss | 1-0539-001 | SNP array | Genotyping | 29 |
| nssv15627427 | copy number loss | 1-0539-004 | SNP array | Genotyping | 22 |
| nssv15633215 | copy number loss | 11-0013-003 | SNP array | Genotyping | 24 |
| nssv15638826 | copy number loss | 14-0034-001 | SNP array | Genotyping | 20 |
| nssv15638845 | copy number loss | 14-0034-002 | SNP array | Genotyping | 20 |
| nssv15679325 | copy number loss | 218119 | SNP array | Genotyping | 29 |
| nssv15685086 | copy number loss | OCD163-896473 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616805 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15623130 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15624004 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15624360 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15627365 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15627427 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15633215 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15638826 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15638845 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15679325 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15685086 | Remapped | Perfect | NC_000002.12:g.(?_ 137279767)_(137316 225_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 137,279,767 | 137,316,225 |
| nssv15616805 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15623130 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15624004 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15624360 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15627365 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15627427 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15633215 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15638826 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15638845 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15679325 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 | ||
| nssv15685086 | Submitted genomic | NC_000002.11:g.(?_ 138037337)_(138073 795_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 138,037,337 | 138,073,795 |