A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064858



Internal ID19154077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13095446hg38UCSC Ensembl
Innerchr21:14364519..14467767hg19UCSC Ensembl
Innerchr21:13286390..13389638hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38103249
hg19103249
hg18103249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4374n100
Supporting Variantsnssv3585227, nssv3585228
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)nsv1064858
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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