A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029681



Internal ID19293544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108385838..108443575hg38UCSC Ensembl
Outerchr1:108368123..108471286hg38UCSC Ensembl
Innerchr1:108928460..108986197hg19UCSC Ensembl
Outerchr1:108910745..109013908hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38103164
hg19103164
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161257
Supporting Variants
Samples
Known GenesNBPF6
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)nssv4029681
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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