nsv6622737
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,435
- 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: 207 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622737 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nsv6622737 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282055 | deletion | OSC2125 | SNP array | Probe signal intensity | 5 |
| nssv18283006 | deletion | OSC2364 | SNP array | Probe signal intensity | nssv18283289, nssv18283635 |
| nssv18287222 | deletion | OSC2982 | SNP array | Probe signal intensity | 7 |
| nssv18288869 | deletion | OSC3248 | SNP array | Probe signal intensity | 9 |
| nssv18289633 | deletion | OSC3361 | SNP array | Probe signal intensity | 8 |
| nssv18289888 | deletion | OSC3544 | SNP array | Probe signal intensity | 6 |
| nssv18291072 | deletion | OSC3725 | SNP array | Probe signal intensity | 5 |
| nssv18295946 | deletion | OSC0472 | SNP array | Probe signal intensity | 6 |
| nssv18301517 | deletion | OSC0588 | SNP array | Probe signal intensity | 6 |
| nssv18302076 | deletion | OSC0585 | SNP array | Probe signal intensity | 9 |
| nssv18309730 | deletion | OSC0734 | SNP array | Probe signal intensity | nssv18309734 |
| nssv18310062 | deletion | OSC0755 | SNP array | Probe signal intensity | 5 |
| nssv18314476 | deletion | OSC0827 | SNP array | Probe signal intensity | 5 |
| nssv18315909 | deletion | OSC0847 | SNP array | Probe signal intensity | 11 |
| nssv18320090 | deletion | OSC1088 | SNP array | Probe signal intensity | 5 |
| nssv18321204 | deletion | OSC0122 | SNP array | Probe signal intensity | 5 |
| nssv18322078 | deletion | OSC1200 | SNP array | Probe signal intensity | nssv18322079, nssv18322080, nssv18322081 |
| nssv18323352 | deletion | OSC1436 | SNP array | Probe signal intensity | 6 |
| nssv18324727 | deletion | OSC1758 | SNP array | Probe signal intensity | 10 |
| nssv18324981 | deletion | OSC1930 | SNP array | Probe signal intensity | 9 |
| nssv18325689 | deletion | OSC1794 | SNP array | Probe signal intensity | 7 |
| nssv18325711 | deletion | OSC1807 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282055 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18283006 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18287222 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18288869 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18289633 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18289888 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18291072 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18295946 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18301517 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18302076 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18309730 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18310062 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18314476 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18315909 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18320090 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18321204 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18322078 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18323352 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18324727 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18324981 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18325689 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18325711 | Remapped | Perfect | NC_000014.9:g.(?_4 7780999)_(47802433 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 47,780,999 | 47,802,433 |
| nssv18282055 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18283006 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18287222 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18288869 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18289633 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18289888 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18291072 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18295946 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18301517 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18302076 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18309730 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18310062 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18314476 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18315909 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18320090 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18321204 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18322078 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18323352 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18324727 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18324981 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18325689 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 | ||
| nssv18325711 | Submitted genomic | NC_000014.8:g.(?_4 8250202)_(48271636 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,250,202 | 48,271,636 |