A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160225



Internal ID19302620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380735..20422239hg38UCSC Ensembl
Outerchr15:20376311..20441322hg38UCSC Ensembl
Innerchr15:20585988..20627492hg19UCSC Ensembl
Outerchr15:20581564..20646575hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3865012
hg1965012
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031912, nssv4031913, nssv4031916, nssv4031915, nssv4031914
Samples
Known GenesHERC2P3
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)nsv1160225
Frequency
Sample Size369
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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