A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977520



Internal ID19246071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181324999..181327799hg38UCSC Ensembl
Outerchr5:180752000..180754800hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115712
Supporting Variants
SamplesKWS2
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977520
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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