nsv6628604
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:194,157
- Publication(s):Zarrei et al. 2023
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: 1416 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1578 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6628604 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nsv6628604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18285398 | deletion | OSC2727 | SNP array | Probe signal intensity | 6 |
nssv18291031 | deletion | OSC0382 | SNP array | Probe signal intensity | 6 |
nssv18291162 | deletion | OSC3784 | SNP array | Probe signal intensity | 5 |
nssv18292171 | duplication | OSC0395 | SNP array | Probe signal intensity | nssv18292481, nssv18291586, nssv18292167 |
nssv18305070 | deletion | OSC0653 | SNP array | Probe signal intensity | 7 |
nssv18319965 | deletion | OSC0987 | SNP array | Probe signal intensity | 10 |
nssv18325749 | deletion | OSC1833 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18285398 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18291031 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18291162 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18292171 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18305070 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18319965 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18325749 | Remapped | Pass | NC_000002.12:g.(?_ 97091641)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,091,641 | 97,285,797 |
nssv18285398 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18291031 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18291162 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18292171 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18305070 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18319965 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 | ||
nssv18325749 | Submitted genomic | NC_000002.11:g.(?_ 97757378)_(9802394 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,757,378 | 98,023,948 |