A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160090



Internal ID19303525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219959397..219964547hg38UCSC Ensembl
Outerchr1:219944508..219967372hg38UCSC Ensembl
Innerchr1:220132739..220137889hg19UCSC Ensembl
Outerchr1:220117850..220140714hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822865
hg1922865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026153
Samples
Known GenesRNU5F-1
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)nsv1160090
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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