A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701943



Internal ID15091909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19576510..19577187hg38UCSC Ensembl
Innerchr8:19434021..19434698hg19UCSC Ensembl
Innerchr8:19478301..19478978hg18UCSC Ensembl
Innerchr8:19478301..19478978hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38678
hg19678
hg18678
hg17678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525772
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701943
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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