A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137004



Internal ID19258483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68263252..68263318hg38UCSC Ensembl
Outerchr5:67559080..67559146hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974926
SamplesKWS2
Known GenesPIK3R1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137004
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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