A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137533



Internal ID18910603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146144437..146146437hg38UCSC Ensembl
Outerchr5:145524000..145526000hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990036
SamplesKWS2
Known GenesLARS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137533
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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