A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518018



Internal ID15098625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:107677265..107681270hg38UCSC Ensembl
Innerchr7:107317710..107321715hg19UCSC Ensembl
Innerchr7:107104946..107108951hg18UCSC Ensembl
Innerchr7:106911661..106915666hg17UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg384006
hg194006
hg184006
hg174006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695430
Samples
Known GenesSLC26A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518018
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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