A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112421



Internal ID19257674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:59172022..59172081hg38UCSC Ensembl
Outerchr5:58467848..58467907hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966504
SamplesKWS2
Known GenesPDE4D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112421
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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