A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031532



Internal ID19295395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94685135..94689598hg38UCSC Ensembl
Outerchr12:94677358..94691746hg38UCSC Ensembl
Innerchr12:95078911..95083374hg19UCSC Ensembl
Outerchr12:95071134..95085522hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3814389
hg1914389
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160057
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)nssv4031532
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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