A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585253



Internal ID18883534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13251452hg38UCSC Ensembl
Innerchr21:14364519..14623773hg19UCSC Ensembl
Innerchr21:13286390..13545644hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38259255
hg19259255
hg18259255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061209
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)nssv3585253
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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