A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029797



Internal ID18946974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143759680hg38UCSC Ensembl
Outerchr1:143538619..143760271hg38UCSC Ensembl
Innerchr1:149036524..149254329hg19UCSC Ensembl
Outerchr1:149024808..149254920hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38221653
hg19230113
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161512
Supporting Variants
Samples
Known GenesLOC101929780, NBPF23
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)nssv4029797
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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