A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131871



Internal ID19250696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:11240376..11240471hg38UCSC Ensembl
Outerchr5:11240488..11240583hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986463
SamplesKWS1
Known GenesCTNND2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131871
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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