A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483007



Internal ID15582375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86112425..86255709hg38UCSC Ensembl
Innerchr5:85408243..85551527hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38143285
hg19143285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996430
Samples
Known Genes
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483007
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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