A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038191



Internal ID19300330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57809966..58012787hg38UCSC Ensembl
Outerchr10:57809329..58015004hg38UCSC Ensembl
Innerchr10:59569726..59772547hg19UCSC Ensembl
Outerchr10:59569089..59774764hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38205676
hg19205676
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161965
Supporting Variants
Samples
Known Genes
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)nssv4038191
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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