A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699559



Internal ID15089525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12474506..12742810hg38UCSC Ensembl
Innerchr18:12474505..12742809hg19UCSC Ensembl
Innerchr18:12464505..12732809hg18UCSC Ensembl
Innerchr18:12464505..12732809hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38268305
hg19268305
hg18268305
hg17268305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523743
Supporting Variants
Samples
Known GenesCEP76, PSMG2, SPIRE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699559
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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