A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979881



Internal ID18879458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:376503..376557hg38UCSC Ensembl
Outerchr5:376618..376672hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117406
Supporting Variants
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979881
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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