A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038050



Internal ID18953503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137124458..137427508hg38UCSC Ensembl
Outerchr9:137118319..137438026hg38UCSC Ensembl
Innerchr9:140018910..140321960hg19UCSC Ensembl
Outerchr9:140012771..140332478hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38319708
hg19319708
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161918
Supporting Variants
Samples
Known GenesANAPC2, C9orf169, C9orf173, ENTPD8, EXD3, FAM166A, GRIN1, LOC100129722, LRRC26, MIR3621, NDOR1, NELFB, NOXA1, NRARP, RNF208, RNF224, SLC34A3, SSNA1, TMEM203, TMEM210, TOR4A, TPRN, TUBB4B
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)nssv4038050
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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