A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160069



Internal ID18957840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128081486..128195809hg38UCSC Ensembl
Outerchr12:128079651..128197327hg38UCSC Ensembl
Innerchr12:128566031..128680354hg19UCSC Ensembl
Outerchr12:128564196..128681872hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38117677
hg19117677
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031561
Samples
Known GenesLOC100996679, LOC101927694
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)nsv1160069
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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