A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974599



Internal ID18900647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73128688..73128760hg38UCSC Ensembl
Outerchr5:72424515..72424587hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114692
Supporting Variants
SamplesKWS2
Known GenesTMEM171
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974599
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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