A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031465



Internal ID18948642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48278523..48315594hg38UCSC Ensembl
Outerchr12:48277081..48330531hg38UCSC Ensembl
Innerchr12:48672306..48709377hg19UCSC Ensembl
Outerchr12:48670864..48724314hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3853451
hg1953451
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160031
Supporting Variants
Samples
Known GenesH1FNT
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)nssv4031465
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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