A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150478



Internal ID15533937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110224953hg38UCSC Ensembl
Innerchr2:110857243..110982530hg19UCSC Ensembl
Innerchr2:110214532..110339819hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125288
hg19125288
hg18125288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582673
Supporting Variants
SamplesNINDS_236
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150478
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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