A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161564



Internal ID18955802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75530800..75585831hg38UCSC Ensembl
Outerchr7:75526495..75590555hg38UCSC Ensembl
Innerchr7:75160126..75215149hg19UCSC Ensembl
Outerchr7:75155825..75219873hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3864061
hg1964049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035582
Samples
Known GenesHIP1, PMS2P3
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)nsv1161564
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