A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984992



Internal ID18860553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134176809..134177609hg38UCSC Ensembl
Outerchr5:133512500..133513300hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126724
Supporting Variants
SamplesKWS1
Known GenesSKP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984992
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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