A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030197



Internal ID19294060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122572780..122629488hg38UCSC Ensembl
Outerchr10:122564250..122629780hg38UCSC Ensembl
Innerchr10:124332296..124389004hg19UCSC Ensembl
Outerchr10:124323766..124389296hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3865531
hg1965531
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159773
Supporting Variants
Samples
Known GenesDMBT1
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)nssv4030197
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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