A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3577250



Internal ID18875531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61929371..62063588hg38UCSC Ensembl
Innerchr2:62156506..62290723hg19UCSC Ensembl
Innerchr2:62010010..62144227hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38134218
hg19134218
hg18134218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003647
Supporting Variants
Samples
Known GenesCOMMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3577250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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