A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031528



Internal ID18948705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86628573..86920553hg38UCSC Ensembl
Outerchr12:86619205..86927531hg38UCSC Ensembl
Innerchr12:87022350..87314330hg19UCSC Ensembl
Outerchr12:87012982..87321308hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38308327
hg19308327
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160053
Supporting Variants
Samples
Known GenesMGAT4C
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)nssv4031528
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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