A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976498



Internal ID19228950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18463060..18557560hg38UCSC Ensembl
Outerchr13:19037200..19131700hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3894501
hg1994501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115443
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976498
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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