A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061884



Internal ID19151103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13198241hg38UCSC Ensembl
Innerchr21:14364519..14570562hg19UCSC Ensembl
Innerchr21:13286390..13492433hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38206044
hg19206044
hg18206044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585242, nssv3585237, nssv3585239, nssv3585241, nssv3585236, nssv3585238, nssv3585240
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)nsv1061884
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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