nsv6630105
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,268
- 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: 755 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nsv6630105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284191 | deletion | OSC2543 | SNP array | Probe signal intensity | nssv18284796, nssv18284190 |
| nssv18284216 | deletion | OSC2560 | SNP array | Probe signal intensity | 6 |
| nssv18284878 | deletion | OSC2601 | SNP array | Probe signal intensity | nssv18284879, nssv18284267 |
| nssv18288098 | deletion | OSC0032 | SNP array | Probe signal intensity | 9 |
| nssv18295253 | deletion | OSC4480 | SNP array | Probe signal intensity | 10 |
| nssv18295751 | deletion | OSC4683 | SNP array | Probe signal intensity | nssv18295753, nssv18295752, nssv18296071 |
| nssv18297785 | deletion | OSC4996 | SNP array | Probe signal intensity | nssv18297784, nssv18298358, nssv18298024 |
| nssv18297876 | deletion | OSC5059 | SNP array | Probe signal intensity | 5 |
| nssv18298741 | deletion | OSC5034 | SNP array | Probe signal intensity | 8 |
| nssv18300936 | deletion | OSC5534 | SNP array | Probe signal intensity | 7 |
| nssv18315649 | deletion | OSC0845 | SNP array | Probe signal intensity | nssv18315001, nssv18315657 |
| nssv18325902 | deletion | OSC0203 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284191 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18284216 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18284878 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18288098 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18295253 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18295751 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18297785 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18297876 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18298741 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18300936 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18315649 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18325902 | Remapped | Perfect | NC_000005.10:g.(?_ 140835410)_(140848 677_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,835,410 | 140,848,677 |
| nssv18284191 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18284216 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18284878 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18288098 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18295253 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18295751 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18297785 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18297876 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18298741 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18300936 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18315649 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 | ||
| nssv18325902 | Submitted genomic | NC_000005.9:g.(?_1 40214995)_(1402282 62_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,214,995 | 140,228,262 |