A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978165



Internal ID18895754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1928986..1930386hg38UCSC Ensembl
Outerchr5:1929100..1930500hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139829
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978165
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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