A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067370



Internal ID19156589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13084083hg38UCSC Ensembl
Innerchr21:14364519..14456404hg19UCSC Ensembl
Innerchr21:13286390..13378275hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3891886
hg1991886
hg1891886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585226, nssv3585225
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)nsv1067370
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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