A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992733



Internal ID19231741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:37251663..37255963hg38UCSC Ensembl
Outerchr13:37825800..37830100hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141228
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992733
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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