A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585224



Internal ID18883505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13080529hg38UCSC Ensembl
Innerchr21:14364519..14452850hg19UCSC Ensembl
Innerchr21:13286390..13374721hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3888332
hg1988332
hg1888332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061111
Supporting Variants
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)nssv3585224
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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