A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581995



Internal ID18880276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74845398..74905284hg38UCSC Ensembl
Innerchr2:75072525..75132411hg19UCSC Ensembl
Innerchr2:74926033..74985919hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3859887
hg1959887
hg1859887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998325
Supporting Variants
Samples
Known GenesHK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581995
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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