A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159873



Internal ID18956496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200129162..200136618hg38UCSC Ensembl
Outerchr1:200117682..200138037hg38UCSC Ensembl
Innerchr1:200098290..200105746hg19UCSC Ensembl
Outerchr1:200086810..200107165hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3820356
hg1920356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026047, nssv4026048
Samples
Known GenesNR5A2
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)nsv1159873
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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