A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036998



Internal ID19289097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71303076..71304364hg38UCSC Ensembl
Outerchr8:71300130..71307628hg38UCSC Ensembl
Innerchr8:72215311..72216599hg19UCSC Ensembl
Outerchr8:72212365..72219863hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387499
hg197499
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161770
Supporting Variants
Samples
Known GenesEYA1
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)nssv4036998
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