A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034685



Internal ID19298548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48791123..48807612hg38UCSC Ensembl
Outerchr6:48788705..48811979hg38UCSC Ensembl
Innerchr6:48758760..48775249hg19UCSC Ensembl
Outerchr6:48756342..48779616hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3823275
hg1923275
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161379
Supporting Variants
Samples
Known Genes
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)nssv4034685
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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