nsv4378626
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80,459
- 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: 3030 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1347 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 2586 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378626 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nsv4378626 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nsv4378626 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611987 | copy number gain | 1-0639-004 | SNP array | Genotyping | 16 |
| nssv15612099 | copy number gain | 1-0646-003 | SNP array | Genotyping | 24 |
| nssv15626248 | copy number loss | 1-0439-001 | SNP array | Genotyping | 17 |
| nssv15626599 | copy number loss | 1-0447-001 | SNP array | Genotyping | 23 |
| nssv15626744 | copy number loss | 1-0445-001 | SNP array | Genotyping | 15 |
| nssv15628062 | copy number gain | 1-0534-001 | SNP array | Genotyping | 23 |
| nssv15658705 | copy number loss | 3-0547-000 | SNP array | Genotyping | 24 |
| nssv15662391 | copy number gain | 5-0001-001 | SNP array | Genotyping | 25 |
| nssv15672441 | copy number loss | 9-0006-001 | SNP array | Genotyping | 21 |
| nssv15672961 | copy number loss | 9-0019-001 | SNP array | Genotyping | 26 |
| nssv15699806 | copy number gain | 80447 | SNP array | Genotyping | 25 |
| nssv15702847 | copy number gain | 200764 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611987 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15612099 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15626248 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15626599 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15626744 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15628062 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15658705 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15662391 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15672441 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15672961 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d el | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15699806 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15702847 | Remapped | Good | NT_187663.1:g.(?_8 37103)_(917561_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 837,103 | 917,561 |
| nssv15611987 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15612099 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15626248 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15626599 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15626744 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15628062 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15658705 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15662391 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15672441 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15672961 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15699806 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15702847 | Remapped | Perfect | NC_000017.11:g.(?_ 46134996)_(4621538 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,134,996 | 46,215,388 |
| nssv15611987 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15612099 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15626248 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15626599 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15626744 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15628062 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15658705 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15662391 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15672441 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15672961 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15699806 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 | ||
| nssv15702847 | Submitted genomic | NC_000017.10:g.(?_ 44212362)_(4429275 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,212,362 | 44,292,754 |