A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161917



Internal ID19303921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136512039..136619628hg38UCSC Ensembl
Outerchr9:136509318..136623715hg38UCSC Ensembl
Innerchr9:139406491..139514080hg19UCSC Ensembl
Outerchr9:139403770..139518167hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38114398
hg19114398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038049
Samples
Known GenesMIR4673, MIR4674, NOTCH1
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)nsv1161917
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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