A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159957



Internal ID18956715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8204911..8249238hg38UCSC Ensembl
Outerchr12:8194209..8252906hg38UCSC Ensembl
Innerchr12:8357507..8401834hg19UCSC Ensembl
Outerchr12:8346805..8405502hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3858698
hg1958698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030954
Samples
Known GenesFAM66C, FAM86FP, FAM90A1
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)nsv1159957
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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