A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585263



Internal ID18536858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080529..13703148hg38UCSC Ensembl
Innerchr21:14452850..15075469hg19UCSC Ensembl
Innerchr21:13374721..13997340hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38622620
hg19622620
hg18622620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059325
Supporting Variants
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585263
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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