A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730862



Internal ID19029143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70503709..70539893hg38UCSC Ensembl
Innerchr2:70730841..70767025hg19UCSC Ensembl
Innerchr2:70584349..70620533hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3836185
hg1936185
hg1836185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000118
Supporting Variants
Samples
Known GenesTGFA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730862
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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