nsv1161118
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,335
- 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: 249 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv1161118 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,250,644 | 97,251,263 | 97,263,981 | 97,267,978 |
nsv1161118 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 98,171,795 | 98,172,414 | 98,185,132 | 98,189,129 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv4029167 | deletion | SNP array | Probe signal intensity | 1 |
nssv4029168 | deletion | SNP array | Probe signal intensity | 1 |
nssv4029169 | duplication | SNP array | Probe signal intensity | 3 |
nssv4029170 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv4029167 | Remapped | Perfect | NC_000004.12:g.(97 250644_97251263)_( 97263981_97267978) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,250,644 | 97,251,263 | 97,263,981 | 97,267,978 |
nssv4029168 | Remapped | Perfect | NC_000004.12:g.(97 250644_97251263)_( 97263981_97267978) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,250,644 | 97,251,263 | 97,263,981 | 97,267,978 |
nssv4029169 | Remapped | Perfect | NC_000004.12:g.(97 250644_97251263)_( 97263981_97267978) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,250,644 | 97,251,263 | 97,263,981 | 97,267,978 |
nssv4029170 | Remapped | Perfect | NC_000004.12:g.(97 250644_97251263)_( 97263981_97267978) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,250,644 | 97,251,263 | 97,263,981 | 97,267,978 |
nssv4029167 | Submitted genomic | NC_000004.11:g.(98 171795_98172414)_( 98185132_98189129) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,171,795 | 98,172,414 | 98,185,132 | 98,189,129 | ||
nssv4029168 | Submitted genomic | NC_000004.11:g.(98 171795_98172414)_( 98185132_98189129) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,171,795 | 98,172,414 | 98,185,132 | 98,189,129 | ||
nssv4029169 | Submitted genomic | NC_000004.11:g.(98 171795_98172414)_( 98185132_98189129) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,171,795 | 98,172,414 | 98,185,132 | 98,189,129 | ||
nssv4029170 | Submitted genomic | NC_000004.11:g.(98 171795_98172414)_( 98185132_98189129) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,171,795 | 98,172,414 | 98,185,132 | 98,189,129 |