A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161542



Internal ID19304626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143811517hg38UCSC Ensembl
Outerchr1:143538619..143842082hg38UCSC Ensembl
Innerchr1:149036524..149306068hg19UCSC Ensembl
Outerchr1:149024808..149336636hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38303464
hg19311829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n111
Supporting Variantsnssv4029806
Samples
Known GenesLOC101929780, LOC388692, 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)nsv1161542
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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