A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161900



Internal ID18956501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113092071..113121473hg38UCSC Ensembl
Outerchr9:113058286..113122418hg38UCSC Ensembl
Innerchr9:115854351..115883753hg19UCSC Ensembl
Outerchr9:115820566..115884698hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3864133
hg1964133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279n111
Supporting Variantsnssv4037941, nssv4037942
Samples
Known GenesFAM225A, FAM225B
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)nsv1161900
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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