A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1032499



Internal ID15885685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128409132..128515162hg38UCSC Ensembl
Innerchr5:127744825..127850855hg19UCSC Ensembl
Innerchr5:127772724..127878754hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38106031
hg19106031
hg18106031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599698
Supporting Variants
Samples
Known GenesFBN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1032499
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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