A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137534



Internal ID18931189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151410439..151413039hg38UCSC Ensembl
Outerchr5:150790000..150792600hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990037
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137534
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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