A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979913



Internal ID19232481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53345528..53345659hg38UCSC Ensembl
Outerchr6:53210326..53210457hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143150
Supporting Variants
SamplesKWS2
Known GenesELOVL5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979913
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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