A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114655



Internal ID18903085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16666217..16666296hg38UCSC Ensembl
Outerchr5:16666326..16666405hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974562
SamplesKWS2
Known GenesMYO10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114655
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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