A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978172



Internal ID19234437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58552473..58557973hg38UCSC Ensembl
Outerchr5:57848300..57853800hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139836
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978172
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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