nsv3170130
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,450
- Publication(s):Fu et al. 2018
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: 1157 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1157 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 597 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3170130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,071,897 | 69,075,039 | 69,091,029 | 69,091,346 |
| nsv3170130 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 66,739,134 | 66,742,276 | 66,758,266 | 66,758,583 |
| nsv3170130 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 64,890,114 | 64,893,256 | 64,909,246 | 64,909,563 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14247819 | deletion | MLY_14 | SNP array | SNP genotyping analysis | 1 | 131 |
| nssv14245414 | deletion | MLY_13 | SNP array | SNP genotyping analysis | 1 | 132 |
| nssv14241047 | deletion | MLY_4 | SNP array | SNP genotyping analysis | 1 | 145 |
| nssv14241266 | deletion | NGO_16 | SNP array | SNP genotyping analysis | 1 | 117 |
| nssv14241611 | deletion | NGO_18 | SNP array | SNP genotyping analysis | 1 | 119 |
| nssv14246121 | duplication | NGO_24 | SNP array | SNP genotyping analysis | 3 | 155 |
| nssv14248283 | deletion | MLY_1 | SNP array | SNP genotyping analysis | 1 | 163 |
| nssv14249060 | deletion | MLY_8 | SNP array | SNP genotyping analysis | 1 | 135 |
| nssv14249216 | deletion | NGO_33 | SNP array | SNP genotyping analysis | 1 | 124 |
| nssv14249882 | deletion | NGO_20 | SNP array | SNP genotyping analysis | 1 | 131 |
| nssv14249987 | deletion | MLY_10 | SNP array | SNP genotyping analysis | 1 | 140 |
| nssv14250183 | deletion | NGO_38 | SNP array | SNP genotyping analysis | 1 | 106 |
| nssv14251138 | deletion | NGO_10 | SNP array | SNP genotyping analysis | 1 | 137 |
| nssv14251739 | deletion | NGO_34 | SNP array | SNP genotyping analysis | 1 | 122 |
| nssv14250483 | deletion | NGO_25 | SNP array | SNP genotyping analysis | 1 | 145 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14247819 | Remapped | Perfect | NC_000018.10:g.(69 071897_69075039)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,071,897 | 69,075,039 | 69,086,089 | 69,090,459 |
| nssv14245414 | Remapped | Perfect | NC_000018.10:g.(69 075180_69075518)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,075,180 | 69,075,518 | 69,086,089 | 69,090,459 |
| nssv14241047 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14241266 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14241611 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14246121 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14248283 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14249060 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14249216 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14249882 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14249987 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14250183 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14251138 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14251739 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69086089_69090459) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,086,089 | 69,090,459 |
| nssv14250483 | Remapped | Perfect | NC_000018.10:g.(69 076108_69078869)_( 69091029_69091346) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,076,108 | 69,078,869 | 69,091,029 | 69,091,346 |
| nssv14247819 | Remapped | Perfect | NC_000018.9:g.(667 39134_66742276)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,739,134 | 66,742,276 | 66,753,326 | 66,757,696 |
| nssv14245414 | Remapped | Perfect | NC_000018.9:g.(667 42417_66742755)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,742,417 | 66,742,755 | 66,753,326 | 66,757,696 |
| nssv14241047 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14241266 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14241611 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14246121 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d up | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14248283 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14249060 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14249216 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14249882 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14249987 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14250183 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14251138 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14251739 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6753326_66757696)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,753,326 | 66,757,696 |
| nssv14250483 | Remapped | Perfect | NC_000018.9:g.(667 43345_66746106)_(6 6758266_66758583)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,743,345 | 66,746,106 | 66,758,266 | 66,758,583 |
| nssv14247819 | Submitted genomic | NC_000018.8:g.(648 90114_64893256)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,890,114 | 64,893,256 | 64,904,306 | 64,908,676 | ||
| nssv14245414 | Submitted genomic | NC_000018.8:g.(648 93397_64893735)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,893,397 | 64,893,735 | 64,904,306 | 64,908,676 | ||
| nssv14241047 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14241266 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14241611 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14246121 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14248283 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14249060 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14249216 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14249882 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14249987 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14250183 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14251138 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14251739 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4904306_64908676)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,904,306 | 64,908,676 | ||
| nssv14250483 | Submitted genomic | NC_000018.8:g.(648 94325_64897086)_(6 4909246_64909563)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,894,325 | 64,897,086 | 64,909,246 | 64,909,563 |