A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161529



Internal ID18956970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143764768hg38UCSC Ensembl
Outerchr1:143538619..143778901hg38UCSC Ensembl
Innerchr1:149036524..149259416hg19UCSC Ensembl
Outerchr1:149024808..149273545hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38240283
hg19248738
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029800, nssv4029801, nssv4029799
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)nsv1161529
Frequency
Sample Size369
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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