nsv4381142
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:47,838
- 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: 720 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4381142 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nsv4381142 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15628286 | copy number gain | 1-0509-003 | SNP array | Genotyping | 16 |
nssv15628311 | copy number gain | 1-0509-002 | SNP array | Genotyping | 14 |
nssv15656740 | copy number gain | 3-0508-000 | SNP array | Genotyping | 20 |
nssv15660743 | copy number gain | 5-0061-003 | SNP array | Genotyping | 14 |
nssv15674183 | copy number gain | 9-0021-003 | SNP array | Genotyping | 18 |
nssv15700229 | copy number gain | 195904 | SNP array | Genotyping | 18 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15628286 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15628311 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15656740 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15660743 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15674183 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15700229 | Remapped | Perfect | NC_000003.12:g.(?_ 128657823)_(128705 660_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,657,823 | 128,705,660 |
nssv15628286 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 | ||
nssv15628311 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 | ||
nssv15656740 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 | ||
nssv15660743 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 | ||
nssv15674183 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 | ||
nssv15700229 | Submitted genomic | NC_000003.11:g.(?_ 128376666)_(128424 503_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,376,666 | 128,424,503 |