A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031472



Internal ID19295335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62821353..62847091hg38UCSC Ensembl
Outerchr12:62818607..62850778hg38UCSC Ensembl
Innerchr12:63215133..63240871hg19UCSC Ensembl
Outerchr12:63212387..63244558hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3832172
hg1932172
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160038
Supporting Variants
Samples
Known GenesPPM1H
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)nssv4031472
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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