A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699813



Internal ID15436465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5188973..5201443hg38UCSC Ensembl
Innerchr18:5188972..5201442hg19UCSC Ensembl
Innerchr18:5178972..5191442hg18UCSC Ensembl
Innerchr18:5178972..5191442hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3812471
hg1912471
hg1812471
hg1712471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523963
Supporting Variants
Samples
Known GenesC18orf42
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699813
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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