A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3570478



Internal ID18868759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..73399hg38UCSC Ensembl
Innerchr2:12772..73399hg19UCSC Ensembl
Innerchr2:2772..63399hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3860628
hg1960628
hg1860628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000679
Supporting Variants
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3570478
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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