A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056208



Internal ID19145427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13167698hg38UCSC Ensembl
Innerchr21:14364519..14540019hg19UCSC Ensembl
Innerchr21:13286390..13461890hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38175501
hg19175501
hg18175501
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3732557, nssv3585232, nssv3585233
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)nsv1056208
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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