A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3579171



Internal ID18530766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32415700..33101417hg38UCSC Ensembl
Innerchr2:32640768..33326484hg19UCSC Ensembl
Innerchr2:32494272..33179988hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38685718
hg19685717
hg18685717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001300
Supporting Variants
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3579171
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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