nsv912325
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:64,771
- 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: 815 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 815 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv912325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nsv912325 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nsv912325 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1521186 | copy number gain | SP52264 | SNP array | SNP genotyping analysis | 10 |
| nssv1527205 | copy number gain | SP58240 | SNP array | SNP genotyping analysis | 8 |
| nssv1539250 | copy number gain | MS14268 | SNP array | SNP genotyping analysis | 15 |
| nssv1554033 | copy number gain | MS20546 | SNP array | SNP genotyping analysis | 8 |
| nssv1555879 | copy number gain | MS21677 | SNP array | SNP genotyping analysis | 23 |
| nssv1557521 | copy number gain | MS22741 | SNP array | SNP genotyping analysis | 13 |
| nssv1582030 | copy number gain | IS35771 | SNP array | SNP genotyping analysis | 78 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1521186 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1527205 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1539250 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1554033 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1555879 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1557521 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1582030 | Remapped | Perfect | NC_000019.10:g.(52 799369_52808310)_( 52855636_52864139) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 52,799,369 | 52,808,310 | 52,855,636 | 52,864,139 |
| nssv1521186 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1527205 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1539250 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1554033 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1555879 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1557521 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1582030 | Remapped | Perfect | NC_000019.9:g.(533 02622_53311563)_(5 3358889_53367392)d up | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 53,302,622 | 53,311,563 | 53,358,889 | 53,367,392 |
| nssv1521186 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1527205 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1539250 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1554033 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1555879 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1557521 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 | ||
| nssv1582030 | Submitted genomic | NC_000019.8:g.(579 94434_58003375)_(5 8050701_58059204)d up | NCBI36 (hg18) | NC_000019.8 | Chr19 | 57,994,434 | 58,003,375 | 58,050,701 | 58,059,204 |