nsv428449
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:98,569
- Publication(s):Perry et al. 2008
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: 402 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428449 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nsv428449 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nsv428449 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv454581 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv454582 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv454583 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv454584 | copy number gain | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv454585 | copy number gain | HGDP00474 | BAC aCGH | Probe signal intensity | 56 |
| nssv454586 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv454588 | copy number gain | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
| nssv454589 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv454590 | copy number gain | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv454591 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv454592 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv454593 | copy number loss | NA19108 | BAC aCGH | Probe signal intensity | 84 |
| nssv454594 | copy number gain | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv454595 | copy number gain | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv454596 | copy number gain | NA19181 | BAC aCGH | Probe signal intensity | 87 |
| nssv454597 | copy number gain | NA19189 | BAC aCGH | Probe signal intensity | 94 |
| nssv454599 | copy number gain | NA19225 | BAC aCGH | Probe signal intensity | 71 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv454581 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454582 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454583 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454584 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454585 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454586 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454588 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454589 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454590 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454591 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454592 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454593 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454594 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454595 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454596 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454597 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454599 | Remapped | Perfect | NC_000004.12:g.(?_ 116601155)_(116699 723_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 116,601,155 | 116,699,723 |
| nssv454581 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454582 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454583 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454584 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454585 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454586 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454588 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454589 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454590 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454591 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454592 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454593 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454594 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454595 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454596 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454597 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454599 | Remapped | Perfect | NC_000004.11:g.(?_ 117522311)_(117620 879_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 117,522,311 | 117,620,879 |
| nssv454581 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454582 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454583 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454584 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454585 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454586 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454588 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454589 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454590 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454591 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454592 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454593 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454594 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454595 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454596 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454597 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 | ||
| nssv454599 | Submitted genomic | NC_000004.10:g.(?_ 117741759)_(117840 327_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 117,741,759 | 117,840,327 |