A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159907



Internal ID18957753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67368375..67518604hg38UCSC Ensembl
Outerchr11:67362651..67521123hg38UCSC Ensembl
Innerchr11:67135846..67286075hg19UCSC Ensembl
Outerchr11:67130122..67288594hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38158473
hg19158473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52n111
Supporting Variantsnssv4030792
Samples
Known GenesAIP, CABP2, CABP4, CARNS1, CDK2AP2, CLCF1, CORO1B, GPR152, LOC100130987, MIR6752, PITPNM1, PPP1CA, PTPRCAP, RAD9A, RPS6KB2, TBC1D10C, TMEM134
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)nsv1159907
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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