A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160583



Internal ID18957489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9163996..9167445hg38UCSC Ensembl
Outerchr19:9163124..9174084hg38UCSC Ensembl
Innerchr19:9274672..9278121hg19UCSC Ensembl
Outerchr19:9273800..9284760hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810961
hg1910961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039705, nssv4039700, nssv4039704, nssv4039693, nssv4039709, nssv4039714, nssv4039706, nssv4039697, nssv4039715, nssv4039712, nssv4039699, nssv4039695, nssv4039701, nssv4039707, nssv4039703, nssv4039713, nssv4039710, nssv4039708, nssv4039711, nssv4039702, nssv4039698, nssv4039694, nssv4039696
Samples
Known GenesZNF317
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)nsv1160583
Frequency
Sample Size369
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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