A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160946



Internal ID19304196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:74462616..74534692hg38UCSC Ensembl
Outerchr3:74459505..74535454hg38UCSC Ensembl
Innerchr3:74511767..74583843hg19UCSC Ensembl
Outerchr3:74508656..74584605hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3875950
hg1975950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027746
Samples
Known GenesCNTN3
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)nsv1160946
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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