A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595250



Internal ID18893531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47886240..47990911hg38UCSC Ensembl
Innerchr3:47927730..48032401hg19UCSC Ensembl
Innerchr3:47902734..48007405hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38104672
hg19104672
hg18104672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000817
Supporting Variants
Samples
Known GenesMAP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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