A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029176



Internal ID18946353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12797714..12938438hg38UCSC Ensembl
Outerchr1:12792723..12953291hg38UCSC Ensembl
Innerchr1:12857863..12998268hg19UCSC Ensembl
Outerchr1:12852872..13013117hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38160569
hg19160246
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161124
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv4029176
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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