A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064938



Internal ID19154157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13270143hg38UCSC Ensembl
Innerchr21:14364519..14642464hg19UCSC Ensembl
Innerchr21:13286390..13564335hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38277946
hg19277946
hg18277946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585256, nssv3585257
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)nsv1064938
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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