A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029629



Internal ID18946806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15465929..15484726hg38UCSC Ensembl
Outerchr1:15463238..15484851hg38UCSC Ensembl
Innerchr1:15792424..15811221hg19UCSC Ensembl
Outerchr1:15789733..15811346hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3821614
hg1921614
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161190
Supporting Variants
Samples
Known GenesCELA2A, CELA2B
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)nssv4029629
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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