A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028190



Internal ID19292053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:152629305..152638413hg38UCSC Ensembl
Outerchr3:152625038..152638694hg38UCSC Ensembl
Innerchr3:152347094..152356202hg19UCSC Ensembl
Outerchr3:152342827..152356483hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg3813657
hg1913657
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160991
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)nssv4028190
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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