A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030930



Internal ID18948107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:756570..759942hg38UCSC Ensembl
Outerchr12:754908..760032hg38UCSC Ensembl
Innerchr12:865736..869108hg19UCSC Ensembl
Outerchr12:864074..869198hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385125
hg195125
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159950
Supporting Variants
Samples
Known GenesWNK1
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)nssv4030930
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