A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039849



Internal ID19301988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42816985..43124678hg38UCSC Ensembl
Outerchr19:42811459..43130018hg38UCSC Ensembl
Innerchr19:43321137..43628830hg19UCSC Ensembl
Outerchr19:43315611..43634170hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38318560
hg19318560
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160634
Supporting Variants
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
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)nssv4039849
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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