A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160891



Internal ID18956882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187377226..187492452hg38UCSC Ensembl
Outerchr2:187373679..187495032hg38UCSC Ensembl
Innerchr2:188241953..188357179hg19UCSC Ensembl
Outerchr2:188238406..188359759hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38121354
hg19121354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027530
Samples
Known GenesCALCRL, TFPI
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)nsv1160891
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