A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161682



Internal ID19304122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:805477..874393hg38UCSC Ensembl
Outerchr1:793228..877938hg38UCSC Ensembl
Innerchr1:740857..809773hg19UCSC Ensembl
Outerchr1:728608..813318hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3884711
hg1984711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2n111
Supporting Variantsnssv4029914
Samples
Known GenesFAM41C, FAM87B, LINC00115, LINC01128
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)nsv1161682
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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