A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031527



Internal ID19295390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86628573..86752107hg38UCSC Ensembl
Outerchr12:86619205..86756322hg38UCSC Ensembl
Innerchr12:87022350..87145884hg19UCSC Ensembl
Outerchr12:87012982..87150099hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38137118
hg19137118
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160052
Supporting Variants
Samples
Known GenesMGAT4C
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)nssv4031527
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