A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994843



Internal ID19225704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132777008..132777308hg38UCSC Ensembl
Outerchr5:132112700..132113000hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144120
Supporting Variants
SamplesKWS1
Known GenesSEPT8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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