A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704987



Internal ID15094953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32918657..32977021hg38UCSC Ensembl
Innerchr18:30498621..30556985hg19UCSC Ensembl
Innerchr18:28752619..28810983hg18UCSC Ensembl
Innerchr18:28752619..28810983hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3858365
hg1958365
hg1858365
hg1758365
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528397
Supporting Variants
Samples
Known GenesCCDC178
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704987
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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