A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160983



Internal ID19303820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130087394..130125709hg38UCSC Ensembl
Outerchr3:130087209..130129574hg38UCSC Ensembl
Innerchr3:129806237..129844552hg19UCSC Ensembl
Outerchr3:129806052..129848417hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3842366
hg1942366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028105
Samples
Known GenesALG1L2, FAM86HP
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)nsv1160983
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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