A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997688



Internal ID19189673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:20147446..20529162hg38UCSC Ensembl
Outerchr15:20352699..20734400hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38381717
hg19381702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148902
Supporting Variants
SamplesKWB1
Known GenesCHEK2P2, HERC2P3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997688
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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