A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142450



Internal ID19285563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137910079..137910146hg38UCSC Ensembl
Outerchr5:137245768..137245835hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993951
SamplesKWS2
Known GenesPKD2L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142450
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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