A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062637



Internal ID19151856
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 StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585235, nssv3585234
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)nsv1062637
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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