A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117549



Internal ID19281451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35705992..35706049hg38UCSC Ensembl
Outerchr5:35706094..35706151hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956848
SamplesKWS1
Known GenesSPEF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117549
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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