A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026384



Internal ID18943561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585893..248647345hg38UCSC Ensembl
Outerchr1:248574146..248650779hg38UCSC Ensembl
Innerchr1:248749194..248810646hg19UCSC Ensembl
Outerchr1:248737447..248814080hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876634
hg1976634
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160544
Supporting Variants
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T34, OR2T35
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)nssv4026384
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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