A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036099



Internal ID18941512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149862596..150113829hg38UCSC Ensembl
Outerchr7:149855457..150116613hg38UCSC Ensembl
Innerchr7:149559685..149810918hg19UCSC Ensembl
Outerchr7:149552546..149813702hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38261157
hg19261157
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161666
Supporting Variants
Samples
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
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)nssv4036099
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