nsv4385735
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,556
- 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: 856 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 856 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385735 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nsv4385735 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nsv4385735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15618397 | copy number loss | 1-0868-003 | SNP array | Genotyping | 29 |
| nssv15641204 | copy number loss | 14-0295-001 | SNP array | Genotyping | 23 |
| nssv15641434 | copy number loss | 14-0349-003 | SNP array | Genotyping | 20 |
| nssv15653939 | copy number loss | 2-1618-001 | SNP array | Genotyping | 18 |
| nssv15656895 | copy number loss | 3-0663-000 | SNP array | Genotyping | 28 |
| nssv15657041 | copy number loss | 3-0749-000 | SNP array | Genotyping | 25 |
| nssv15670239 | copy number loss | 7-0287-003 | SNP array | Genotyping | 20 |
| nssv15681934 | copy number loss | 211604 | SNP array | Genotyping | 13 |
| nssv15700906 | copy number loss | 227889 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15618397 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15641204 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15641434 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15653939 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15656895 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15657041 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15670239 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15681934 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15700906 | Remapped | Perfect | NW_003315915.1:g.( ?_269739)_(326294_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 269,739 | 326,294 |
| nssv15618397 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15641204 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15641434 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15653939 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15656895 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15657041 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15670239 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15681934 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15700906 | Remapped | Perfect | NC_000004.12:g.(?_ 34777410)_(3483396 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,777,410 | 34,833,965 |
| nssv15618397 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15641204 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15641434 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15653939 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15656895 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15657041 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15670239 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15681934 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 | ||
| nssv15700906 | Submitted genomic | NC_000004.11:g.(?_ 34779032)_(3483558 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,032 | 34,835,587 |