A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161946



Internal ID19304213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46416650..46489856hg38UCSC Ensembl
Outerchr10:46412752..46489856hg38UCSC Ensembl
Innerchr10:47055654..47133101hg19UCSC Ensembl
Outerchr10:47047599..47136996hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3877105
hg1989398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31n111
Supporting Variantsnssv4038146
Samples
Known GenesHNRNPA1P33, LINC00842, LOC100996758, NPY4R
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)nsv1161946
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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