nsv3158054
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,377
- Description:
See descriptions for individual calls in download files - 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: 114 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3158054 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nsv3158054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14199419 | copy number gain | Sequencing | Read depth |
nssv14199420 | copy number gain | Sequencing | Read depth |
nssv14199421 | copy number gain | Sequencing | Read depth |
nssv14199422 | copy number gain | Sequencing | Read depth |
nssv14199423 | copy number gain | Sequencing | Read depth |
nssv14199424 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14199419 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199420 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199421 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199422 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199423 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199424 | Remapped | Good | NC_000014.9:g.(?_7 3491016)_(73495392 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,491,016 | 73,495,392 |
nssv14199419 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 | ||
nssv14199420 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 | ||
nssv14199421 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 | ||
nssv14199422 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 | ||
nssv14199423 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 | ||
nssv14199424 | Submitted genomic | NC_000014.8:g.(?_7 3957721)_(73962096 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,957,721 | 73,962,096 |