A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999571



Internal ID18812421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53463400..53548585hg38UCSC Ensembl
Innerchr2:53690538..53775723hg19UCSC Ensembl
Innerchr2:53544042..53629227hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3885186
hg1985186
hg1885186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3843n100
Supporting Variantsnssv3730765
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)nsv999571
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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