A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109697



Internal ID19256562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:55651973..55652032hg38UCSC Ensembl
Outerchr5:54947801..54947860hg19UCSC 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 Variantsnssv3957269
SamplesKWS1
Known GenesSLC38A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109697
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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