A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117550



Internal ID19282368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35734401..35734471hg38UCSC Ensembl
Outerchr5:35734503..35734573hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956849
SamplesKWS1
Known GenesSPEF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117550
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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