nsv470060
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,306
- Description:Single-copy duplication
- Publication(s):Jakobsson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 536 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 536 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
nsv470060 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,676,842 | 97,827,147 |
nsv470060 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 98,597,993 | 98,748,298 |
nsv470060 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 98,817,016 | 98,967,321 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv546346 | copy number gain | HGDP01049 | SNP array | SNP genotyping analysis | 3 | 8 |
nssv546345 | copy number gain | HGDP01038 | SNP array | SNP genotyping analysis | 3 | nssv544599, nssv545443, nssv547776 |
nssv546347 | copy number gain | HGDP01050 | SNP array | SNP genotyping analysis | 3 | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv546346 | Remapped | Perfect | NC_000004.12:g.(?_ 97676842)_(9778589 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,676,842 | 97,785,895 |
nssv546345 | Remapped | Perfect | NC_000004.12:g.(?_ 97676842)_(9782714 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,676,842 | 97,827,147 |
nssv546347 | Remapped | Perfect | NC_000004.12:g.(?_ 97704346)_(9778589 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,704,346 | 97,785,895 |
nssv546346 | Remapped | Perfect | NC_000004.11:g.(?_ 98597993)_(9870704 6_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,597,993 | 98,707,046 |
nssv546345 | Remapped | Perfect | NC_000004.11:g.(?_ 98597993)_(9874829 8_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,597,993 | 98,748,298 |
nssv546347 | Remapped | Perfect | NC_000004.11:g.(?_ 98625497)_(9870704 6_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,625,497 | 98,707,046 |
nssv546346 | Submitted genomic | NC_000004.10:g.(?_ 98817016)_(9892606 9_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,817,016 | 98,926,069 | ||
nssv546345 | Submitted genomic | NC_000004.10:g.(?_ 98817016)_(9896732 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,817,016 | 98,967,321 | ||
nssv546347 | Submitted genomic | NC_000004.10:g.(?_ 98844520)_(9892606 9_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,844,520 | 98,926,069 |