A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160442



Internal ID18956365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88711587..88769171hg38UCSC Ensembl
Outerchr16:88708161..88778524hg38UCSC Ensembl
Innerchr16:88777995..88835579hg19UCSC Ensembl
Outerchr16:88774569..88844932hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3870364
hg1970364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039008
Samples
Known GenesCTU2, LOC100289580, MIR4722, PIEZO1
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)nsv1160442
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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