A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160825



Internal ID18956967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95065229..95440630hg38UCSC Ensembl
Outerchr2:95050220..95445574hg38UCSC Ensembl
Innerchr2:95730974..96106378hg19UCSC Ensembl
Outerchr2:95715965..96111322hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38395355
hg19395358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026965
Samples
Known GenesFAHD2A, KCNIP3, MAL, MRPS5, PROM2, ZNF2, ZNF514
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)nsv1160825
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