A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117430



Internal ID19270172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179737781..179737863hg38UCSC Ensembl
Outerchr5:179164782..179164864hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980004
SamplesKWS2
Known GenesMAML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117430
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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