nsv520722
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:381,246
- Publication(s):Shaikh et al. 2009
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: 1168 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1168 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv520722 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 52,812,632 | 53,193,877 |
| nsv520722 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 53,039,770 | 53,421,015 |
| nsv520722 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 52,951,421 | 53,332,666 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv674792 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv690894 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv702363 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv702554 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv674792 | Remapped | Perfect | NC_000002.12:g.(?_ 52812632)_(5319387 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,812,632 | 53,193,877 |
| nssv690894 | Remapped | Perfect | NC_000002.12:g.(?_ 52812632)_(5319387 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,812,632 | 53,193,877 |
| nssv702363 | Remapped | Perfect | NC_000002.12:g.(?_ 52824335)_(5282940 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,824,335 | 52,829,408 |
| nssv702554 | Remapped | Perfect | NC_000002.12:g.(?_ 52932564)_(5303305 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,932,564 | 53,033,058 |
| nssv674792 | Remapped | Perfect | NC_000002.11:g.(?_ 53039770)_(5342101 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 53,039,770 | 53,421,015 |
| nssv690894 | Remapped | Perfect | NC_000002.11:g.(?_ 53039770)_(5342101 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 53,039,770 | 53,421,015 |
| nssv702363 | Remapped | Perfect | NC_000002.11:g.(?_ 53051473)_(5305654 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 53,051,473 | 53,056,546 |
| nssv702554 | Remapped | Perfect | NC_000002.11:g.(?_ 53159702)_(5326019 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 53,159,702 | 53,260,196 |
| nssv674792 | Submitted genomic | NC_000002.9:g.(?_5 2951421)_(53332666 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,951,421 | 53,332,666 | ||
| nssv690894 | Submitted genomic | NC_000002.9:g.(?_5 2951421)_(53332666 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,951,421 | 53,332,666 | ||
| nssv702363 | Submitted genomic | NC_000002.9:g.(?_5 2963124)_(52968197 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 52,963,124 | 52,968,197 | ||
| nssv702554 | Submitted genomic | NC_000002.9:g.(?_5 3071353)_(53171847 _?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 53,071,353 | 53,171,847 |