A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037837



Internal ID19299976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:107209210..107226680hg38UCSC Ensembl
Outerchr9:107206809..107234573hg38UCSC Ensembl
Innerchr9:109971491..109988961hg19UCSC Ensembl
Outerchr9:109969090..109996854hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3827765
hg1927765
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161894
Supporting Variants
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)nssv4037837
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer