A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161446



Internal ID18955992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118423030..118900300hg38UCSC Ensembl
Outerchr6:118418441..118902959hg38UCSC Ensembl
Innerchr6:118744193..119221465hg19UCSC Ensembl
Outerchr6:118739604..119224124hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38484519
hg19484521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035050
Samples
Known GenesASF1A, BRD7P3, CEP85L, LOC100287632, MCM9, PLN
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)nsv1161446
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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