A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032518



Internal ID19296381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41064635..41111820hg38UCSC Ensembl
Outerchr18:41063108..41117680hg38UCSC Ensembl
Innerchr18:38644599..38691784hg19UCSC Ensembl
Outerchr18:38643072..38697644hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3854573
hg1954573
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160519
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)nssv4032518
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