A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694574



Internal ID15431226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62792679..62845511hg38UCSC Ensembl
Innerchr8:63705238..63758070hg19UCSC Ensembl
Innerchr8:63867792..63920624hg18UCSC Ensembl
Innerchr8:63867792..63920624hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3852833
hg1952833
hg1852833
hg1752833
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521804
Supporting Variants
Samples
Known GenesNKAIN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694574
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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