A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983760



Internal ID19227934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101334376..101334484hg38UCSC Ensembl
Outerchr13:101986727..101986835hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125577
Supporting Variants
SamplesKWS2
Known GenesNALCN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983760
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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