A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160124



Internal ID19303813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57376447..57476563hg38UCSC Ensembl
Outerchr13:57375964..57477107hg38UCSC Ensembl
Innerchr13:57950581..58050697hg19UCSC Ensembl
Outerchr13:57950098..58051241hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38101144
hg19101144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031697
Samples
Known Genes
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)nsv1160124
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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