A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037823



Internal ID19299962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:86207833..86227936hg38UCSC Ensembl
Outerchr9:86203367..86231000hg38UCSC Ensembl
Innerchr9:88822748..88842851hg19UCSC Ensembl
Outerchr9:88818282..88845915hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3827634
hg1927634
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161880
Supporting Variants
Samples
Known GenesC9orf153
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)nssv4037823
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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