A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993952



Internal ID19245943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138334265..138334325hg38UCSC Ensembl
Outerchr5:137669954..137670014hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142451
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993952
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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