A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026038



Internal ID18943215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198648442..198741317hg38UCSC Ensembl
Outerchr1:198642804..198745766hg38UCSC Ensembl
Innerchr1:198617571..198710446hg19UCSC Ensembl
Outerchr1:198611934..198714895hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38102963
hg19102962
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159863
Supporting Variants
Samples
Known GenesPTPRC
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)nssv4026038
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