A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028212



Internal ID18945389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12781785..12923686hg38UCSC Ensembl
Outerchr1:12779433..12938438hg38UCSC Ensembl
Innerchr1:12841928..12983506hg19UCSC Ensembl
Outerchr1:12839576..12998268hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38159006
hg19158693
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160996
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, 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)nssv4028212
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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