nsv1160360
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:230,464
- Publication(s):Lou et al. 2015
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: 1366 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 738 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1366 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1160360 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,474,343 | 16,491,407 | 16,695,080 | 16,704,806 |
| nsv1160360 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,135,403 | 2,135,403 | 2,365,731 | 2,365,731 |
| nsv1160360 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,568,200 | 16,585,264 | 16,788,937 | 16,798,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv4038567 | deletion | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4038567 | Remapped | Good | NT_187607.1:g.(213 5403_2135403)_(236 5731_2365731)del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,135,403 | 2,135,403 | 2,365,731 | 2,365,731 |
| nssv4038567 | Remapped | Perfect | NC_000016.10:g.(16 474343_16491407)_( 16695080_16704806) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,474,343 | 16,491,407 | 16,695,080 | 16,704,806 |
| nssv4038567 | Submitted genomic | NC_000016.9:g.(165 68200_16585264)_(1 6788937_16798663)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,568,200 | 16,585,264 | 16,788,937 | 16,798,663 |