nsv3147249
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,726
- Description:qual score = 94
- Publication(s):Exome Aggregation Consortium CNVs
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: 1017 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1017 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3147249 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 159,031,825 | 159,142,550 |
nsv3147249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 158,824,516 | 158,935,242 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14153304 | copy number loss | Sequencing | Read depth |
nssv14159819 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14153304 | Remapped | Good | NC_000007.14:g.(?_ 159031825)_(159142 550_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,031,825 | 159,142,550 |
nssv14159819 | Remapped | Good | NC_000007.14:g.(?_ 159031825)_(159142 550_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,031,825 | 159,142,550 |
nssv14153304 | Submitted genomic | NC_000007.13:g.(?_ 158824516)_(158935 242_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,824,516 | 158,935,242 | ||
nssv14159819 | Submitted genomic | NC_000007.13:g.(?_ 158824516)_(158935 242_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,824,516 | 158,935,242 |