A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161043



Internal ID18956394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678909..103725600hg38UCSC Ensembl
Outerchr1:103635416..103760781hg38UCSC Ensembl
Innerchr1:104221531..104268222hg19UCSC Ensembl
Outerchr1:104178038..104303403hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38125366
hg19125366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n111
Supporting Variantsnssv4028601
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)nsv1161043
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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