A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993668



Internal ID18898030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113829367..113829459hg38UCSC Ensembl
Outerchr13:114532340..114532432hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142162
Supporting Variants
SamplesKWS2
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993668
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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