nsv4380451
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,226
- Publication(s):Zarrei et al. 2019
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: 1033 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1034 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380451 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nsv4380451 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614650 | copy number gain | 1-0736-003 | SNP array | Genotyping | 25 |
| nssv15615248 | copy number gain | 1-0754-003 | SNP array | Genotyping | 12 |
| nssv15617280 | copy number gain | 1-0832-003 | SNP array | Genotyping | 21 |
| nssv15618845 | copy number gain | 1-0891-003 | SNP array | Genotyping | 28 |
| nssv15621030 | copy number gain | 1-0981-003 | SNP array | Genotyping | 24 |
| nssv15624075 | copy number gain | 1-0291-001 | SNP array | Genotyping | 12 |
| nssv15635557 | copy number gain | 12-4676-002 | SNP array | Genotyping | 17 |
| nssv15636392 | copy number gain | 13-0049-002 | SNP array | Genotyping | 32 |
| nssv15636824 | copy number gain | 13-0161-002 | SNP array | Genotyping | 20 |
| nssv15638271 | copy number gain | 14-0056-002 | SNP array | Genotyping | 23 |
| nssv15639936 | copy number gain | 14-0253-002 | SNP array | Genotyping | 18 |
| nssv15641113 | copy number gain | 14-0384-001 | SNP array | Genotyping | 28 |
| nssv15641747 | copy number gain | 14-0273-001 | SNP array | Genotyping | 11 |
| nssv15642276 | copy number gain | 14-0384-004 | SNP array | Genotyping | 26 |
| nssv15644508 | copy number gain | 15-1123-003 | SNP array | Genotyping | 15 |
| nssv15658570 | copy number gain | 4-0047-002 | SNP array | Genotyping | 21 |
| nssv15665175 | copy number gain | 7-0067-003 | SNP array | Genotyping | 13 |
| nssv15671027 | copy number gain | 7-0298-003 | SNP array | Genotyping | 22 |
| nssv15677576 | copy number gain | 215804 | SNP array | Genotyping | 29 |
| nssv15694010 | copy number gain | 79220 | SNP array | Genotyping | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614650 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15615248 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15617280 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15618845 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15621030 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15624075 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15635557 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15636392 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15636824 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15638271 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15639936 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15641113 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15641747 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15642276 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15644508 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15658570 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15665175 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15671027 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15677576 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15694010 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,106 |
| nssv15614650 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15615248 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15617280 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15618845 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15621030 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15624075 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15635557 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15636392 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15636824 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15638271 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15639936 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15641113 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15641747 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15642276 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15644508 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15658570 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15665175 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15671027 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15677576 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 | ||
| nssv15694010 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,705 |