A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123918



Internal ID19251941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17246572..17246623hg38UCSC Ensembl
Outerchr5:17246681..17246732hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974093
SamplesKWS2
Known GenesBASP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123918
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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