A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159768



Internal ID19302562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177540241..177595712hg38UCSC Ensembl
Outerchr1:177538592..177597524hg38UCSC Ensembl
Innerchr1:177509376..177564847hg19UCSC Ensembl
Outerchr1:177507727..177566659hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3858933
hg1958933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n111
Supporting Variantsnssv4025997
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)nsv1159768
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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