A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117406



Internal ID18923487
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 StatusM
Merged Variants
Supporting Variantsnssv3988302, nssv3979881
SamplesKWS1, KWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117406
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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