A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689475



Internal ID18641070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62229643..62478261hg38UCSC Ensembl
Innerchr8:63142202..63390820hg19UCSC Ensembl
Innerchr8:63304756..63553374hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38248619
hg19248619
hg18248619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019143
Supporting Variants
Samples
Known GenesNKAIN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689475
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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