A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992090



Internal ID19228096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174521718..174521790hg38UCSC Ensembl
Outerchr5:173948721..173948793hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140589
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992090
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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