nsv470283
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:456,231
- 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: 1828 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1827 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 677 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv470283 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 34,210,762 | 34,666,992 |
| nsv470283 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,363,697 | 34,819,927 |
| nsv470283 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 34,254,964 | 34,711,194 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv546931 | copy number gain | HGDP01086 | SNP array | SNP genotyping analysis | 3 | 6 |
| nssv546933 | copy number gain | HGDP00457 | SNP array | SNP genotyping analysis | 3 | nssv544403, nssv544787 |
| nssv546934 | copy number gain | HGDP01084 | SNP array | SNP genotyping analysis | 3 | 6 |
| nssv546930 | copy number gain | HGDP01033 | SNP array | SNP genotyping analysis | 3 | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546931 | Remapped | Perfect | NC_000012.12:g.(?_ 34210762)_(3466699 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,210,762 | 34,666,992 |
| nssv546933 | Remapped | Perfect | NC_000012.12:g.(?_ 34210762)_(3466699 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,210,762 | 34,666,992 |
| nssv546934 | Remapped | Perfect | NC_000012.12:g.(?_ 34227415)_(3466699 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,227,415 | 34,666,992 |
| nssv546930 | Remapped | Perfect | NC_000012.12:g.(?_ 34422070)_(3466699 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,422,070 | 34,666,992 |
| nssv546931 | Remapped | Perfect | NC_000012.11:g.(?_ 34363697)_(3481992 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,363,697 | 34,819,927 |
| nssv546933 | Remapped | Perfect | NC_000012.11:g.(?_ 34363697)_(3481992 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,363,697 | 34,819,927 |
| nssv546934 | Remapped | Perfect | NC_000012.11:g.(?_ 34380350)_(3481992 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,380,350 | 34,819,927 |
| nssv546930 | Remapped | Perfect | NC_000012.11:g.(?_ 34575005)_(3481992 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,575,005 | 34,819,927 |
| nssv546931 | Submitted genomic | NC_000012.10:g.(?_ 34254964)_(3471119 4_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,254,964 | 34,711,194 | ||
| nssv546933 | Submitted genomic | NC_000012.10:g.(?_ 34254964)_(3471119 4_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,254,964 | 34,711,194 | ||
| nssv546934 | Submitted genomic | NC_000012.10:g.(?_ 34271617)_(3471119 4_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,271,617 | 34,711,194 | ||
| nssv546930 | Submitted genomic | NC_000012.10:g.(?_ 34466272)_(3471119 4_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,466,272 | 34,711,194 |