A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036978



Internal ID19289077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62439941..62491141hg38UCSC Ensembl
Outerchr8:62431646..62496364hg38UCSC Ensembl
Innerchr8:63352500..63403700hg19UCSC Ensembl
Outerchr8:63344205..63408923hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3864719
hg1964719
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161766
Supporting Variants
Samples
Known GenesNKAIN3
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nssv4036978
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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