A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161442



Internal ID18956061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106200974..106509848hg38UCSC Ensembl
Outerchr6:106196410..106519212hg38UCSC Ensembl
Innerchr6:106648849..106957723hg19UCSC Ensembl
Outerchr6:106644285..106967087hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38322803
hg19322803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035046
Samples
Known GenesAIM1, ATG5
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)nsv1161442
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