A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033460



Internal ID19122681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180099789..180138253hg38UCSC Ensembl
Innerchr5:179526789..179565253hg19UCSC Ensembl
Innerchr5:179459395..179497859hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3838465
hg1938465
hg1838465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649314
Samples
Known GenesRASGEF1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033460
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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