A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967384



Internal ID19231094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88141183..88144783hg38UCSC Ensembl
Outerchr5:87437000..87440600hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112884
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967384
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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