A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974182



Internal ID19233431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157673102..157673166hg38UCSC Ensembl
Outerchr5:157100110..157100174hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124001
Supporting Variants
SamplesKWS2
Known GenesC5orf52
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974182
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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