A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026158



Internal ID18943335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228087626..228236899hg38UCSC Ensembl
Outerchr1:228081212..228239280hg38UCSC Ensembl
Innerchr1:228275327..228424600hg19UCSC Ensembl
Outerchr1:228268913..228426981hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38158069
hg19158069
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160102
Supporting Variants
Samples
Known GenesARF1, C1orf145, C1orf35, GJC2, GUK1, IBA57, IBA57-AS1, MIR3620, MRPL55, OBSCN
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)nssv4026158
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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