A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026267



Internal ID19290130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238685625..238688966hg38UCSC Ensembl
Outerchr1:238675105..238690336hg38UCSC Ensembl
Innerchr1:238848925..238852266hg19UCSC Ensembl
Outerchr1:238838405..238853636hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815232
hg1915232
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160376
Supporting Variants
Samples
Known Genes
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)nssv4026267
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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