A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159955



Internal ID19302626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851829..7971304hg38UCSC Ensembl
Outerchr12:7842191..7978362hg38UCSC Ensembl
Innerchr12:8004425..8123900hg19UCSC Ensembl
Outerchr12:7994787..8130958hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136172
hg19136172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61n111
Supporting Variantsnssv4030948, nssv4030946, nssv4030944, nssv4030951, nssv4030949, nssv4030947, nssv4030945, nssv4030950
Samples
Known GenesSLC2A14, SLC2A3
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)nsv1159955
Frequency
Sample Size369
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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