A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161721



Internal ID19302547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374772..12585546hg38UCSC Ensembl
Outerchr8:12359339..12616034hg38UCSC Ensembl
Innerchr8:12232281..12443055hg19UCSC Ensembl
Outerchr8:12216848..12473543hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38256696
hg19256696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n111
Supporting Variantsnssv4036607, nssv4036608
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
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)nsv1161721
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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