A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3585261



Internal ID18536856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13060451..13780941hg38UCSC Ensembl
Innerchr21:14432772..15153262hg19UCSC Ensembl
Innerchr21:13354643..14075133hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38720491
hg19720491
hg18720491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062937
Supporting Variants
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3585261
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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