A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971121



Internal ID19217356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81886673..81887006hg38UCSC Ensembl
Outerchr5:81182492..81182825hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131318
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971121
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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