A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699334



Internal ID15435986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48807550..48811490hg38UCSC Ensembl
Innerchr18:46333921..46337861hg19UCSC Ensembl
Innerchr18:44587919..44591859hg18UCSC Ensembl
Innerchr18:44587919..44591859hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383941
hg193941
hg183941
hg173941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515638
Supporting Variants
Samples
Known GenesCTIF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699334
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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