A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585252



Internal ID18883533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13249186hg38UCSC Ensembl
Innerchr21:14364519..14621507hg19UCSC Ensembl
Innerchr21:13286390..13543378hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38256989
hg19256989
hg18256989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055866
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)nssv3585252
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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