A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585232



Internal ID18883513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13167698hg38UCSC Ensembl
Innerchr21:14364519..14540019hg19UCSC Ensembl
Innerchr21:13286390..13461890hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38175501
hg19175501
hg18175501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056208
Supporting Variants
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585232
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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