A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029790



Internal ID19293653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148926674..148988765hg38UCSC Ensembl
Outerchr1:148918723..148991041hg38UCSC Ensembl
Innerchr1:144895709..144957815hg19UCSC Ensembl
Outerchr1:144893433..144965770hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3872319
hg1972338
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161492
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
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)nssv4029790
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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