A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159809



Internal ID19302522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190001238..190017296hg38UCSC Ensembl
Outerchr1:189994327..190021937hg38UCSC Ensembl
Innerchr1:189970368..189986426hg19UCSC Ensembl
Outerchr1:189963457..189991067hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3827611
hg1927611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n111
Supporting Variantsnssv4026010, nssv4026011, nssv4026009
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)nsv1159809
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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