A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585235



Internal ID18883516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13194038hg38UCSC Ensembl
Innerchr21:14364519..14566359hg19UCSC Ensembl
Innerchr21:13286390..13488230hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38201841
hg19201841
hg18201841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062637
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)nssv3585235
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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