nsv1053816
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:235,776
- Publication(s):Coe et al. 2014
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: 1261 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 678 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1261 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1053816 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,539,504 | 16,775,279 |
| nsv1053816 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,200,564 | 2,436,213 |
| nsv1053816 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,633,361 | 16,869,136 |
| nsv1053816 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,540,862 | 16,776,637 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3558093 | copy number loss | SNP array | Probe signal intensity |
| nssv3558094 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3558093 | Remapped | Good | NT_187607.1:g.(?_2 200564)_(2436213_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,200,564 | 2,436,213 |
| nssv3558094 | Remapped | Good | NT_187607.1:g.(?_2 200564)_(2436213_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,200,564 | 2,436,213 |
| nssv3558093 | Remapped | Perfect | NC_000016.10:g.(?_ 16539504)_(1677527 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,539,504 | 16,775,279 |
| nssv3558094 | Remapped | Perfect | NC_000016.10:g.(?_ 16539504)_(1677527 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,539,504 | 16,775,279 |
| nssv3558093 | Remapped | Perfect | NC_000016.9:g.(?_1 6633361)_(16869136 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,633,361 | 16,869,136 |
| nssv3558094 | Remapped | Perfect | NC_000016.9:g.(?_1 6633361)_(16869136 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,633,361 | 16,869,136 |
| nssv3558093 | Submitted genomic | NC_000016.8:g.(?_1 6540862)_(16776637 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,540,862 | 16,776,637 | ||
| nssv3558094 | Submitted genomic | NC_000016.8:g.(?_1 6540862)_(16776637 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,540,862 | 16,776,637 |