A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160492



Internal ID18957293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088435..46286848hg38UCSC Ensembl
Outerchr17:46085732..46317046hg38UCSC Ensembl
Innerchr17:44165801..44364214hg19UCSC Ensembl
Outerchr17:44163098..44394412hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38231315
hg19231315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039381, nssv4039380
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
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)nsv1160492
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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