A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005923



Internal ID19095141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20144267..20170020hg38UCSC Ensembl
Innerchr2:20344028..20369781hg19UCSC Ensembl
Innerchr2:20207509..20233262hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3825754
hg1925754
hg1825754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3578993
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)nsv1005923
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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