A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161854



Internal ID19303689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30342074..30524027hg38UCSC Ensembl
Outerchr9:30340967..30529594hg38UCSC Ensembl
Innerchr9:30342072..30524025hg19UCSC Ensembl
Outerchr9:30340965..30529592hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38188628
hg19188628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037523
Samples
Known GenesLOC401497
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)nsv1161854
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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