A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967373



Internal ID18880026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628298..42630998hg38UCSC Ensembl
Outerchr5:42628400..42631100hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112873
Supporting Variants
SamplesKWS2
Known GenesGHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967373
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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