A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031542



Internal ID19295405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117611519..117613722hg38UCSC Ensembl
Outerchr12:117611412..117613773hg38UCSC Ensembl
Innerchr12:118049324..118051527hg19UCSC Ensembl
Outerchr12:118049217..118051578hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160064
Supporting Variants
Samples
Known GenesKSR2
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)nssv4031542
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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