A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029371



Internal ID18771902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115205731..115255194hg38UCSC Ensembl
Innerchr5:114541428..114590891hg19UCSC Ensembl
Innerchr5:114569327..114618790hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3849464
hg1949464
hg1849464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647083
Samples
Known GenesPGGT1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029371
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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