A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996430



Internal ID15581931
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 StatusS
Merged Variantsnsv483007
Supporting Variants
Samples
Known Genes
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996430
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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