A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962467



Internal ID19219110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225663674..225663807hg38UCSC Ensembl
Outerchr2:226528390..226528523hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111205
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962467
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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