A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142452



Internal ID19261461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:155761718..155761789hg38UCSC Ensembl
Outerchr5:155188727..155188799hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3872
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979900, nssv3988326
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142452
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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