A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161301



Internal ID19303471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844251..140864171hg38UCSC Ensembl
Outerchr5:140839137..140872578hg38UCSC Ensembl
Innerchr5:140223836..140243756hg19UCSC Ensembl
Outerchr5:140218722..140252163hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3833442
hg1933442
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033741, nssv4033737, nssv4033740, nssv4033733, nssv4033734, nssv4033736, nssv4033735, nssv4033742, nssv4033738, nssv4033739
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nsv1161301
Frequency
Sample Size369
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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