A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992736



Internal ID19234396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48466664..48470464hg38UCSC Ensembl
Outerchr13:49040800..49044600hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141231
Supporting Variants
SamplesKWS2
Known GenesRB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992736
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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