nsv428382
- 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:427,469
- 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: 3686 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3701 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1607 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,764,692 |
| nsv428382 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 11,175,233 |
| nsv428382 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,769,636 | 10,197,104 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv453898 | copy number loss | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv453899 | copy number loss | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv453900 | copy number loss | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv453901 | copy number loss | HGDP01094 | BAC aCGH | Probe signal intensity | 92 |
| nssv453902 | copy number gain | NA19108 | BAC aCGH | Probe signal intensity | 84 |
| nssv453890 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv453889 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv453885 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv453887 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv453888 | copy number loss | NA19225 | BAC aCGH | Probe signal intensity | 71 |
| nssv453878 | copy number gain | HGDP00460 | BAC aCGH | Probe signal intensity | 67 |
| nssv453879 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv453880 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv453881 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv453882 | copy number gain | HGDP01087 | BAC aCGH | Probe signal intensity | 75 |
| nssv453883 | copy number gain | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv453884 | copy number gain | HGDP01094 | BAC aCGH | Probe signal intensity | 92 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv453898 | Remapped | Good | NW_011332699.1:g.( ?_7)_(169908_?)del | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 7 | 169,908 |
| nssv453899 | Remapped | Good | NW_011332699.1:g.( ?_7)_(169908_?)del | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 7 | 169,908 |
| nssv453900 | Remapped | Good | NW_011332699.1:g.( ?_7)_(169908_?)del | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 7 | 169,908 |
| nssv453901 | Remapped | Good | NW_011332699.1:g.( ?_7)_(169908_?)del | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 7 | 169,908 |
| nssv453902 | Remapped | Good | NW_011332699.1:g.( ?_7)_(169908_?)dup | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 7 | 169,908 |
| nssv453890 | Remapped | Pass | NW_011332699.1:g.( ?_9727)_(169908_?) dup | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 9,727 | 169,908 |
| nssv453898 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10510486 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,510,486 |
| nssv453899 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10510486 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,510,486 |
| nssv453900 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10510486 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,510,486 |
| nssv453901 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10510486 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,510,486 |
| nssv453902 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10510486 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,510,486 |
| nssv453889 | Remapped | Perfect | NC_000021.9:g.(?_1 0337224)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,337,224 | 10,764,692 |
| nssv453890 | Remapped | Perfect | NC_000021.9:g.(?_1 0346944)_(10614625 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,346,944 | 10,614,625 |
| nssv453885 | Remapped | Perfect | NC_000021.9:g.(?_1 0440315)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,440,315 | 10,764,692 |
| nssv453887 | Remapped | Perfect | NC_000021.9:g.(?_1 0440315)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,440,315 | 10,764,692 |
| nssv453888 | Remapped | Perfect | NC_000021.9:g.(?_1 0440315)_(10764692 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,440,315 | 10,764,692 |
| nssv453878 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453879 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453880 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453881 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453882 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453883 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453884 | Remapped | Perfect | NC_000021.9:g.(?_1 0589084)_(10764692 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,589,084 | 10,764,692 |
| nssv453878 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453879 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453880 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453881 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453882 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453883 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453884 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(10923373 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 10,923,373 |
| nssv453885 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(11072142 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 11,072,142 |
| nssv453887 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(11072142 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 11,072,142 |
| nssv453888 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(11072142 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 11,072,142 |
| nssv453889 | Remapped | Perfect | NC_000021.8:g.(?_1 0747765)_(11175233 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,747,765 | 11,175,233 |
| nssv453890 | Remapped | Perfect | NC_000021.8:g.(?_1 0897832)_(11165513 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,897,832 | 11,165,513 |
| nssv453898 | Remapped | Perfect | NC_000021.8:g.(?_1 1001971)_(11175233 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,001,971 | 11,175,233 |
| nssv453899 | Remapped | Perfect | NC_000021.8:g.(?_1 1001971)_(11175233 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,001,971 | 11,175,233 |
| nssv453900 | Remapped | Perfect | NC_000021.8:g.(?_1 1001971)_(11175233 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,001,971 | 11,175,233 |
| nssv453901 | Remapped | Perfect | NC_000021.8:g.(?_1 1001971)_(11175233 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,001,971 | 11,175,233 |
| nssv453902 | Remapped | Perfect | NC_000021.8:g.(?_1 1001971)_(11175233 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,001,971 | 11,175,233 |
| nssv453878 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453879 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453880 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453881 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453882 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453883 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453884 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(9945244_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 9,945,244 | ||
| nssv453885 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(10094013_ ?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 10,094,013 | ||
| nssv453887 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(10094013_ ?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 10,094,013 | ||
| nssv453888 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(10094013_ ?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 10,094,013 | ||
| nssv453889 | Submitted genomic | NC_000021.7:g.(?_9 769636)_(10197104_ ?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,769,636 | 10,197,104 | ||
| nssv453890 | Submitted genomic | NC_000021.7:g.(?_9 919703)_(10187384_ ?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,919,703 | 10,187,384 | ||
| nssv453898 | Submitted genomic | NC_000021.7:g.(?_1 0023842)_(10197104 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,023,842 | 10,197,104 | ||
| nssv453899 | Submitted genomic | NC_000021.7:g.(?_1 0023842)_(10197104 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,023,842 | 10,197,104 | ||
| nssv453900 | Submitted genomic | NC_000021.7:g.(?_1 0023842)_(10197104 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,023,842 | 10,197,104 | ||
| nssv453901 | Submitted genomic | NC_000021.7:g.(?_1 0023842)_(10197104 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,023,842 | 10,197,104 | ||
| nssv453902 | Submitted genomic | NC_000021.7:g.(?_1 0023842)_(10197104 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,023,842 | 10,197,104 |