A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160101



Internal ID18955954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222843983..222850262hg38UCSC Ensembl
Outerchr1:222843064..222850427hg38UCSC Ensembl
Innerchr1:223017325..223023604hg19UCSC Ensembl
Outerchr1:223016406..223023769hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387364
hg197364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026156, nssv4026155
Samples
Known GenesDISP1
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)nsv1160101
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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