A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161123



Internal ID18955830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:771719..888756hg38UCSC Ensembl
Outerchr1:690090..901333hg38UCSC Ensembl
Innerchr1:707099..824136hg19UCSC Ensembl
Outerchr1:625470..836713hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38211244
hg19211244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n111
Supporting Variantsnssv4028211, nssv4027100
Samples
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100133331, LOC100288069
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)nsv1161123
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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