A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725984



Internal ID19024265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42081396..42143315hg38UCSC Ensembl
Innerchr2:42308536..42370455hg19UCSC Ensembl
Innerchr2:42162040..42223959hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3861920
hg1961920
hg1861920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012527
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3725984
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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