A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038281



Internal ID18953734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:72102390..72106143hg38UCSC Ensembl
Outerchr10:72102274..72106890hg38UCSC Ensembl
Innerchr10:73862148..73865901hg19UCSC Ensembl
Outerchr10:73862032..73866648hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg384617
hg194617
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161975
Supporting Variants
Samples
Known GenesASCC1
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)nssv4038281
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