A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161877



Internal ID19304171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76941965..76944420hg38UCSC Ensembl
Outerchr9:76939544..76951948hg38UCSC Ensembl
Innerchr9:79556881..79559336hg19UCSC Ensembl
Outerchr9:79554460..79566864hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3812405
hg1912405
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037818, nssv4037816, nssv4037817, nssv4037815, nssv4037811, nssv4037819, nssv4037814, nssv4037810, nssv4037812, nssv4037809, nssv4037813
Samples
Known Genes
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)nsv1161877
Frequency
Sample Size369
Observed Gain2
Observed Loss9
Observed Complex0
Frequencyn/a


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