nsv902539
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:75,003
- Publication(s):Xu et al. 2011
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: 2283 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1582 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2554 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 717 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv902539 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nsv902539 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nsv902539 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nsv902539 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nsv902539 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1524833 | copy number gain | SP55321 | SNP array | SNP genotyping analysis | 12 |
| nssv1542989 | copy number gain | MS15997 | SNP array | SNP genotyping analysis | 18 |
| nssv1562844 | copy number gain | MS25751 | SNP array | SNP genotyping analysis | 42 |
| nssv1563510 | copy number loss | MS26069 | SNP array | SNP genotyping analysis | 8 |
| nssv1564244 | copy number gain | IS30191 | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1524833 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(138899_1478 14)dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nssv1542989 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(138899_1478 14)dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nssv1562844 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(138899_1478 14)dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nssv1563510 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(138899_1478 14)del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nssv1564244 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(138899_1478 14)dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | - | 72,812 | 138,899 | 147,814 |
| nssv1524833 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056711 30_105680045)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nssv1542989 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056711 30_105680045)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nssv1562844 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056711 30_105680045)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nssv1563510 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056711 30_105680045)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nssv1564244 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056711 30_105680045)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | - | 105,605,043 | 105,671,130 | 105,680,045 |
| nssv1524833 | Remapped | Perfect | NW_004166863.1:g.( 244735_249095)_(33 4297_343212)dup | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nssv1542989 | Remapped | Perfect | NW_004166863.1:g.( 244735_249095)_(33 4297_343212)dup | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nssv1562844 | Remapped | Perfect | NW_004166863.1:g.( 244735_249095)_(33 4297_343212)dup | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nssv1563510 | Remapped | Perfect | NW_004166863.1:g.( 244735_249095)_(33 4297_343212)del | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nssv1564244 | Remapped | Perfect | NW_004166863.1:g.( 244735_249095)_(33 4297_343212)dup | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 244,735 | 249,095 | 334,297 | 343,212 |
| nssv1524833 | Remapped | Perfect | NC_000014.8:g.(106 047905_106052265)_ (106137467_1061463 82)dup | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nssv1542989 | Remapped | Perfect | NC_000014.8:g.(106 047905_106052265)_ (106137467_1061463 82)dup | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nssv1562844 | Remapped | Perfect | NC_000014.8:g.(106 047905_106052265)_ (106137467_1061463 82)dup | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nssv1563510 | Remapped | Perfect | NC_000014.8:g.(106 047905_106052265)_ (106137467_1061463 82)del | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nssv1564244 | Remapped | Perfect | NC_000014.8:g.(106 047905_106052265)_ (106137467_1061463 82)dup | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 106,047,905 | 106,052,265 | 106,137,467 | 106,146,382 |
| nssv1524833 | Submitted genomic | NC_000014.7:g.(105 118950_105123310)_ (105208512_1052174 27)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 | ||
| nssv1542989 | Submitted genomic | NC_000014.7:g.(105 118950_105123310)_ (105208512_1052174 27)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 | ||
| nssv1562844 | Submitted genomic | NC_000014.7:g.(105 118950_105123310)_ (105208512_1052174 27)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 | ||
| nssv1563510 | Submitted genomic | NC_000014.7:g.(105 118950_105123310)_ (105208512_1052174 27)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 | ||
| nssv1564244 | Submitted genomic | NC_000014.7:g.(105 118950_105123310)_ (105208512_1052174 27)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,118,950 | 105,123,310 | 105,208,512 | 105,217,427 |