A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037113



Internal ID18942526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143473146..143604922hg38UCSC Ensembl
Outerchr8:143467990..143610108hg38UCSC Ensembl
Innerchr8:144555316..144687092hg19UCSC Ensembl
Outerchr8:144550160..144692278hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38142119
hg19142119
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161809
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, ZC3H3
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)nssv4037113
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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