A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160788



Internal ID18956828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1300270..1362366hg38UCSC Ensembl
Outerchr1:1282706..1376336hg38UCSC Ensembl
Innerchr1:1235650..1297746hg19UCSC Ensembl
Outerchr1:1218086..1311716hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3893631
hg1993631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026656
Samples
Known GenesACAP3, AURKAIP1, CPSF3L, DVL1, GLTPD1, MIR6726, MIR6727, MIR6808, MXRA8, PUSL1, SCNN1D, TAS1R3
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)nsv1160788
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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