A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730768



Internal ID18682363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53753425..53824790hg38UCSC Ensembl
Innerchr2:53980562..54051927hg19UCSC Ensembl
Innerchr2:53834066..53905431hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3871366
hg1971366
hg1871366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009829
Supporting Variants
Samples
Known GenesASB3, CHAC2, ERLEC1, GPR75-ASB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730768
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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