A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027045



Internal ID18944222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38933197..38986185hg38UCSC Ensembl
Outerchr1:38930398..38992438hg38UCSC Ensembl
Innerchr1:39398869..39451857hg19UCSC Ensembl
Outerchr1:39396070..39458110hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3862041
hg1962041
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160833
Supporting Variants
Samples
Known GenesAKIRIN1, RHBDL2
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)nssv4027045
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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