nsv470222
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:163,114
- 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: 640 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 640 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
nsv470222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 83,259,524 | 83,422,637 |
nsv470222 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 84,171,759 | 84,334,872 |
nsv470222 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 84,334,314 | 84,497,427 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv546745 | copy number gain | HGDP00655 | SNP array | SNP genotyping analysis | 3 | 15 |
nssv546742 | copy number gain | HGDP00356 | SNP array | SNP genotyping analysis | 3 | 15 |
nssv546746 | copy number gain | HGDP00953 | SNP array | SNP genotyping analysis | 3 | 6 |
nssv546741 | copy number gain | HGDP01363 | SNP array | SNP genotyping analysis | 3 | 10 |
nssv546744 | copy number gain | HGDP01220 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv546745 | Remapped | Perfect | NC_000008.11:g.(?_ 83259524)_(8337501 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,259,524 | 83,375,018 |
nssv546742 | Remapped | Perfect | NC_000008.11:g.(?_ 83299332)_(8337501 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,299,332 | 83,375,018 |
nssv546746 | Remapped | Perfect | NC_000008.11:g.(?_ 83299332)_(8337501 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,299,332 | 83,375,018 |
nssv546741 | Remapped | Perfect | NC_000008.11:g.(?_ 83299332)_(8342263 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,299,332 | 83,422,637 |
nssv546744 | Remapped | Perfect | NC_000008.11:g.(?_ 83367648)_(8342263 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,367,648 | 83,422,637 |
nssv546745 | Remapped | Perfect | NC_000008.10:g.(?_ 84171759)_(8428725 3_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 84,171,759 | 84,287,253 |
nssv546742 | Remapped | Perfect | NC_000008.10:g.(?_ 84211567)_(8428725 3_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 84,211,567 | 84,287,253 |
nssv546746 | Remapped | Perfect | NC_000008.10:g.(?_ 84211567)_(8428725 3_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 84,211,567 | 84,287,253 |
nssv546741 | Remapped | Perfect | NC_000008.10:g.(?_ 84211567)_(8433487 2_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 84,211,567 | 84,334,872 |
nssv546744 | Remapped | Perfect | NC_000008.10:g.(?_ 84279883)_(8433487 2_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 84,279,883 | 84,334,872 |
nssv546745 | Submitted genomic | NC_000008.9:g.(?_8 4334314)_(84449808 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 84,334,314 | 84,449,808 | ||
nssv546742 | Submitted genomic | NC_000008.9:g.(?_8 4374122)_(84449808 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 84,374,122 | 84,449,808 | ||
nssv546746 | Submitted genomic | NC_000008.9:g.(?_8 4374122)_(84449808 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 84,374,122 | 84,449,808 | ||
nssv546741 | Submitted genomic | NC_000008.9:g.(?_8 4374122)_(84497427 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 84,374,122 | 84,497,427 | ||
nssv546744 | Submitted genomic | NC_000008.9:g.(?_8 4442438)_(84497427 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 84,442,438 | 84,497,427 |