A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117599



Internal ID19267485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174629820..174629958hg38UCSC Ensembl
Outerchr5:174056823..174056961hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956917
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117599
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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