A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697127



Internal ID15087093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22512740..22527548hg38UCSC Ensembl
Innerchr8:22370253..22385061hg19UCSC Ensembl
Innerchr8:22426198..22441006hg18UCSC Ensembl
Innerchr8:22426198..22441006hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3814809
hg1914809
hg1814809
hg1714809
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517680
Supporting Variants
Samples
Known GenesPPP3CC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697127
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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