A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694917



Internal ID15084883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34778266..34898199hg38UCSC Ensembl
Innerchr5:34778371..34898304hg19UCSC Ensembl
Innerchr5:34814128..34934061hg18UCSC Ensembl
Innerchr5:34814128..34934061hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38119934
hg19119934
hg18119934
hg17119934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522144
Supporting Variants
Samples
Known GenesRAI14, TTC23L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694917
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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