A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690245



Internal ID15080211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178240641..178248216hg38UCSC Ensembl
Innerchr5:177667642..177675217hg19UCSC Ensembl
Innerchr5:177600248..177607823hg18UCSC Ensembl
Innerchr5:177600248..177607823hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387576
hg197576
hg187576
hg177576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517167
Supporting Variants
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690245
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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