A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585245



Internal ID18883526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13224699hg38UCSC Ensembl
Innerchr21:14364519..14597020hg19UCSC Ensembl
Innerchr21:13286390..13518891hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38232502
hg19232502
hg18232502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066247
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)nssv3585245
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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