A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028612



Internal ID18945789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678909..103766557hg38UCSC Ensembl
Outerchr1:103635416..103771431hg38UCSC Ensembl
Innerchr1:104221531..104309179hg19UCSC Ensembl
Outerchr1:104178038..104314053hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38136016
hg19136016
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161044
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C
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)nssv4028612
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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