A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160062



Internal ID18957038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109399085..109437227hg38UCSC Ensembl
Outerchr12:109398185..109440020hg38UCSC Ensembl
Innerchr12:109836890..109875032hg19UCSC Ensembl
Outerchr12:109835990..109877825hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3841836
hg1941836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031539
Samples
Known GenesMYO1H
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)nsv1160062
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