A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026965



Internal ID18944142
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160825
Supporting Variants
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)nssv4026965
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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