A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161910



Internal ID19304259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131383392..131430435hg38UCSC Ensembl
Outerchr9:131381288..131433104hg38UCSC Ensembl
Innerchr9:134258779..134305822hg19UCSC Ensembl
Outerchr9:134256675..134308491hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3851817
hg1951817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037953
Samples
Known GenesPRRC2B
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)nsv1161910
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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