A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160854



Internal ID18956209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53022778..53024068hg38UCSC Ensembl
Outerchr1:53022198..53026932hg38UCSC Ensembl
Innerchr1:53488450..53489740hg19UCSC Ensembl
Outerchr1:53487870..53492604hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384735
hg194735
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027168, nssv4027201, nssv4027179, nssv4027190, nssv4027157, nssv4027213, nssv4027224
Samples
Known GenesSCP2
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)nsv1160854
Frequency
Sample Size369
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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