A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039169



Internal ID19301308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17560485..17607982hg38UCSC Ensembl
Outerchr17:17557360..17610214hg38UCSC Ensembl
Innerchr17:17463799..17511296hg19UCSC Ensembl
Outerchr17:17460674..17513528hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3852855
hg1952855
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160458
Supporting Variants
Samples
Known GenesPEMT
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)nssv4039169
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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