A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119053



Internal ID18903303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176817399..176818199hg38UCSC Ensembl
Outerchr5:176244400..176245200hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981851
SamplesKWS1
Known GenesUNC5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119053
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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