A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161861



Internal ID19303540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39827488..39840169hg38UCSC Ensembl
Outerchr9:39807498..39878089hg38UCSC Ensembl
Innerchr9:41972506..41985187hg19UCSC Ensembl
Outerchr9:41952516..42023107hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3870592
hg1970592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037536, nssv4037549, nssv4037546, nssv4037567, nssv4037538, nssv4037554, nssv4037543, nssv4037555, nssv4037537, nssv4037565, nssv4037542, nssv4037558, nssv4037562, nssv4037541, nssv4037539, nssv4037551, nssv4037563, nssv4037553, nssv4037561, nssv4037556, nssv4037534, nssv4037566, nssv4037560, nssv4037535, nssv4037557, nssv4037552, nssv4037540, nssv4037550, nssv4037564, nssv4037547, nssv4037559, nssv4037544, nssv4037568, nssv4037545, nssv4037548
Samples
Known GenesKGFLP2, LOC643648, MGC21881
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)nsv1161861
Frequency
Sample Size369
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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