nsv4377929
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,570
- 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: 1721 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1721 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nsv4377929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15623827 | copy number loss | 1-0245-006 | SNP array | Genotyping | 28 |
| nssv15629789 | copy number loss | 1-0578-003 | SNP array | Genotyping | 24 |
| nssv15631118 | copy number loss | 1-0602-003 | SNP array | Genotyping | 23 |
| nssv15631720 | copy number loss | 10-0014-002 | SNP array | Genotyping | 26 |
| nssv15634837 | copy number loss | 12-8214-001 | SNP array | Genotyping | 20 |
| nssv15640501 | copy number loss | 14-0332-001 | SNP array | Genotyping | 26 |
| nssv15650799 | copy number loss | 2-1368-002 | SNP array | Genotyping | 26 |
| nssv15651209 | copy number loss | 2-1368-003 | SNP array | Genotyping | 22 |
| nssv15666583 | copy number loss | 7-0123-003 | SNP array | Genotyping | 23 |
| nssv15667623 | copy number loss | 5-1000-001 | SNP array | Genotyping | 21 |
| nssv15667644 | copy number loss | 5-1000-003 | SNP array | Genotyping | 18 |
| nssv15668420 | copy number loss | 7-0204-003 | SNP array | Genotyping | 22 |
| nssv15674053 | copy number loss | 9-0039-001 | SNP array | Genotyping | 27 |
| nssv15680405 | copy number loss | 239189S | SNP array | Genotyping | 27 |
| nssv15690677 | copy number loss | OCD159-HM-1439(189732) | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15623827 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15629789 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15631118 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15631720 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15634837 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15640501 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15650799 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15651209 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15666583 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15667623 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15667644 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15668420 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15674053 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15680405 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15690677 | Remapped | Perfect | NC_000020.11:g.(?_ 14788257)_(1484282 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,788,257 | 14,842,826 |
| nssv15623827 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15629789 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15631118 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15631720 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15634837 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15640501 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15650799 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15651209 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15666583 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15667623 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15667644 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15668420 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15674053 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15680405 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 | ||
| nssv15690677 | Submitted genomic | NC_000020.10:g.(?_ 14768903)_(1482347 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 14,768,903 | 14,823,472 |