A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971630



Internal ID19224351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:117358812..117359136hg38UCSC Ensembl
Outerchr5:116694508..116694832hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123030
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971630
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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