nsv4365755
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62,988
- 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: 2804 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2365 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2646 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365755 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nsv4365755 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nsv4365755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612223 | copy number gain | 1-0667-003 | SNP array | Genotyping | 20 |
| nssv15617010 | copy number gain | 1-0833-004 | SNP array | Genotyping | 27 |
| nssv15619787 | copy number gain | 1-0908-003 | SNP array | Genotyping | 22 |
| nssv15639181 | copy number gain | 14-0277-001 | SNP array | Genotyping | 26 |
| nssv15642641 | copy number gain | 14-0356-002 | SNP array | Genotyping | 17 |
| nssv15643422 | copy number gain | 16-1012-002 | SNP array | Genotyping | 21 |
| nssv15646051 | copy number gain | 16-1011-005 | SNP array | Genotyping | 16 |
| nssv15649353 | copy number gain | 2-1375-003 | SNP array | Genotyping | 19 |
| nssv15651051 | copy number gain | 2-1415-001 | SNP array | Genotyping | 22 |
| nssv15651368 | copy number gain | 2-1375-001 | SNP array | Genotyping | 22 |
| nssv15660548 | copy number gain | 5-0006-003 | SNP array | Genotyping | 24 |
| nssv15664107 | copy number gain | 228029 | SNP array | Genotyping | 27 |
| nssv15665457 | copy number gain | 7-0061-003 | SNP array | Genotyping | 32 |
| nssv15666489 | copy number gain | 7-0088-003 | SNP array | Genotyping | 23 |
| nssv15667359 | copy number gain | 7-0166-003 | SNP array | Genotyping | 21 |
| nssv15668261 | copy number gain | 7-0187-003 | SNP array | Genotyping | 31 |
| nssv15668498 | copy number gain | 7-0224-003 | SNP array | Genotyping | 25 |
| nssv15669810 | copy number gain | 7-0250-003 | SNP array | Genotyping | 22 |
| nssv15674208 | copy number gain | 9-0023-001 | SNP array | Genotyping | 19 |
| nssv15677296 | copy number gain | 237804S | SNP array | Genotyping | 26 |
| nssv15677895 | copy number gain | 219448 | SNP array | Genotyping | 15 |
| nssv15690953 | copy number gain | OCD178-YS-1806 | SNP array | Genotyping | 19 |
| nssv15691392 | copy number gain | OCD42-S_0625-2765-1 | SNP array | Genotyping | 28 |
| nssv15698310 | copy number gain | 139979 | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612223 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15617010 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15619787 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15639181 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15642641 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15643422 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15646051 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15649353 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15651051 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15651368 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15660548 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15664107 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15665457 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15666489 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15667359 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15668261 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15668498 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15669810 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15674208 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15677296 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15677895 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15690953 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15691392 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15698310 | Remapped | Good | NT_187600.1:g.(?_9 04038)_(967025_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 904,038 | 967,025 |
| nssv15612223 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15617010 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15619787 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15639181 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15642641 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15643422 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15646051 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15649353 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15651051 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15651368 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15660548 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15664107 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15665457 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15666489 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15667359 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15668261 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15668498 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15669810 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15674208 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15677296 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15677895 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15690953 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15691392 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15698310 | Remapped | Good | NC_000014.9:g.(?_1 06412359)_(1064753 46_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,412,359 | 106,475,346 |
| nssv15612223 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15617010 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15619787 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15639181 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15642641 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15643422 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15646051 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15649353 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15651051 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15651368 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15660548 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15664107 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15665457 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15666489 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15667359 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15668261 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15668498 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15669810 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15674208 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15677296 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15677895 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15690953 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15691392 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 | ||
| nssv15698310 | Submitted genomic | NC_000014.8:g.(?_1 06868273)_(1069313 50_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,868,273 | 106,931,350 |