A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039315



Internal ID18954768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43222561..43368697hg38UCSC Ensembl
Outerchr17:43215382..43371624hg38UCSC Ensembl
Innerchr17:41374581..41446065hg19UCSC Ensembl
Outerchr17:41367401..41448992hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38156243
hg1981592
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160487
Supporting Variants
Samples
Known GenesLINC00854, LINC00910, TMEM106A
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)nssv4039315
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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