A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028634



Internal ID18945811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103760781..103793015hg38UCSC Ensembl
Outerchr1:103725600..103801365hg38UCSC Ensembl
Innerchr1:104303403..104335637hg19UCSC Ensembl
Outerchr1:104268222..104343987hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3875766
hg1975766
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161046
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)nssv4028634
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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