A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039380



Internal ID18954833
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160492
Supporting Variants
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)nssv4039380
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