nsv4381838
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,632
- 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: 1272 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1075 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1020 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1071 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381838 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nsv4381838 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nsv4381838 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nsv4381838 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nsv4381838 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nsv4381838 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615048 | copy number loss | 1-0139-001 | SNP array | Genotyping | 17 |
| nssv15644052 | copy number gain | 16-1017-003 | SNP array | Genotyping | 21 |
| nssv15647972 | copy number loss | 2-1315-003 | SNP array | Genotyping | 24 |
| nssv15666495 | copy number loss | 7-0088-003 | SNP array | Genotyping | 23 |
| nssv15674210 | copy number loss | 9-0023-001 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615048 | Remapped | Perfect | NT_187693.1:g.(?_1 93842)_(224441_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nssv15644052 | Remapped | Perfect | NT_187693.1:g.(?_1 93842)_(224441_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nssv15647972 | Remapped | Perfect | NT_187693.1:g.(?_1 93842)_(224441_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nssv15666495 | Remapped | Perfect | NT_187693.1:g.(?_1 93842)_(224441_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nssv15674210 | Remapped | Perfect | NT_187693.1:g.(?_1 93842)_(224441_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 193,842 | 224,441 |
| nssv15615048 | Remapped | Good | NW_003571061.2:g.( ?_193842)_(224473_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nssv15644052 | Remapped | Good | NW_003571061.2:g.( ?_193842)_(224473_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nssv15647972 | Remapped | Good | NW_003571061.2:g.( ?_193842)_(224473_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nssv15666495 | Remapped | Good | NW_003571061.2:g.( ?_193842)_(224473_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nssv15674210 | Remapped | Good | NW_003571061.2:g.( ?_193842)_(224473_ ?)del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 193,842 | 224,473 |
| nssv15615048 | Remapped | Good | NW_003571060.1:g.( ?_193845)_(224437_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nssv15644052 | Remapped | Good | NW_003571060.1:g.( ?_193845)_(224437_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nssv15647972 | Remapped | Good | NW_003571060.1:g.( ?_193845)_(224437_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nssv15666495 | Remapped | Good | NW_003571060.1:g.( ?_193845)_(224437_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nssv15674210 | Remapped | Good | NW_003571060.1:g.( ?_193845)_(224437_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 193,845 | 224,437 |
| nssv15615048 | Remapped | Good | NW_003571054.1:g.( ?_193659)_(224204_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nssv15644052 | Remapped | Good | NW_003571054.1:g.( ?_193659)_(224204_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nssv15647972 | Remapped | Good | NW_003571054.1:g.( ?_193659)_(224204_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nssv15666495 | Remapped | Good | NW_003571054.1:g.( ?_193659)_(224204_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nssv15674210 | Remapped | Good | NW_003571054.1:g.( ?_193659)_(224204_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 193,659 | 224,204 |
| nssv15615048 | Remapped | Good | NC_000019.10:g.(?_ 54218859)_(5424946 9_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nssv15644052 | Remapped | Good | NC_000019.10:g.(?_ 54218859)_(5424946 9_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nssv15647972 | Remapped | Good | NC_000019.10:g.(?_ 54218859)_(5424946 9_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nssv15666495 | Remapped | Good | NC_000019.10:g.(?_ 54218859)_(5424946 9_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nssv15674210 | Remapped | Good | NC_000019.10:g.(?_ 54218859)_(5424946 9_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,218,859 | 54,249,469 |
| nssv15615048 | Submitted genomic | NC_000019.9:g.(?_5 4722728)_(54753327 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 | ||
| nssv15644052 | Submitted genomic | NC_000019.9:g.(?_5 4722728)_(54753327 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 | ||
| nssv15647972 | Submitted genomic | NC_000019.9:g.(?_5 4722728)_(54753327 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 | ||
| nssv15666495 | Submitted genomic | NC_000019.9:g.(?_5 4722728)_(54753327 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 | ||
| nssv15674210 | Submitted genomic | NC_000019.9:g.(?_5 4722728)_(54753327 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,722,728 | 54,753,327 |