A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161045



Internal ID18955725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678909..103793015hg38UCSC Ensembl
Outerchr1:103635416..103801365hg38UCSC Ensembl
Innerchr1:104221531..104335637hg19UCSC Ensembl
Outerchr1:104178038..104343987hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38165950
hg19165950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n111
Supporting Variantsnssv4028623
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)nsv1161045
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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