A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028579



Internal ID18945756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566616..103589737hg38UCSC Ensembl
Outerchr1:103560608..103613021hg38UCSC Ensembl
Innerchr1:104109238..104132359hg19UCSC Ensembl
Outerchr1:104103230..104155643hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3852414
hg1952414
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161038
Supporting Variants
Samples
Known GenesACTG1P4, AMY2B
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)nssv4028579
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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