A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003205



Internal ID18745736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53992912..54473706hg38UCSC Ensembl
Innerchr2:54220049..54700843hg19UCSC Ensembl
Innerchr2:54073553..54554347hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38480795
hg19480795
hg18480795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3845n100
Supporting Variantsnssv3576630
Samples
Known GenesACYP2, C2orf73, SPTBN1, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003205
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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