A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160653



Internal ID18957083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46142634..46237569hg38UCSC Ensembl
Outerchr19:46139011..46238888hg38UCSC Ensembl
Innerchr19:46645891..46740826hg19UCSC Ensembl
Outerchr19:46642268..46742145hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3899878
hg1999878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv147n111
Supporting Variantsnssv4039943
Samples
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
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)nsv1160653
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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