A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160772



Internal ID18956766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1052992..1318462hg38UCSC Ensembl
Outerchr1:1027585..1333467hg38UCSC Ensembl
Innerchr1:988372..1253842hg19UCSC Ensembl
Outerchr1:962965..1268847hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38305883
hg19305883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026545
Samples
Known GenesACAP3, AGRN, B3GALT6, C1orf159, CPSF3L, FAM132A, GLTPD1, LOC254099, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, RNF223, SCNN1D, SDF4, TAS1R3, TNFRSF18, TNFRSF4, TTLL10, UBE2J2
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)nsv1160772
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer