A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992988



Internal ID19226594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68964073..68966173hg38UCSC Ensembl
Outerchr5:68259900..68262000hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141482
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992988
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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