A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537181



Internal ID15508837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16019962..16045437hg38UCSC Ensembl
Innerchr1:16346457..16371932hg19UCSC Ensembl
Innerchr1:16219044..16244519hg18UCSC Ensembl
Innerchr1:16091763..16117238hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3825476
hg1925476
hg1825476
hg1725476
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv460640
Supporting Variants
SamplesHGDP00906
Known GenesCLCNKA, CLCNKB
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537181
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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