A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995650



Internal ID19194640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40231781..40244982hg38UCSC Ensembl
Outerchr9:42376799..42390000hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3813202
hg1913202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146494
Supporting Variants
SamplesKWB1
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995650
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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