A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026268



Internal ID18943445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24198502..24211197hg38UCSC Ensembl
Outerchr1:24194093..24213738hg38UCSC Ensembl
Innerchr1:24524992..24537687hg19UCSC Ensembl
Outerchr1:24520583..24540228hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3819646
hg1919646
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160378
Supporting Variants
Samples
Known GenesLOC284632
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)nssv4026268
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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