A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160370



Internal ID18957737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231399838..231406910hg38UCSC Ensembl
Outerchr1:231399366..231414693hg38UCSC Ensembl
Innerchr1:231535584..231542656hg19UCSC Ensembl
Outerchr1:231535112..231550439hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3815328
hg1915328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026263, nssv4026264, nssv4026262
Samples
Known GenesEGLN1
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)nsv1160370
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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