A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012754



Internal ID18755286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53463400..53557900hg38UCSC Ensembl
Innerchr2:53690538..53785037hg19UCSC Ensembl
Innerchr2:53544042..53638541hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3894501
hg1994500
hg1894500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3843n100
Supporting Variantsnssv3576624
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)nsv1012754
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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