A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161754



Internal ID19304307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378084..39529446hg38UCSC Ensembl
Outerchr8:39373140..39530780hg38UCSC Ensembl
Innerchr8:39235603..39386965hg19UCSC Ensembl
Outerchr8:39230659..39388299hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38157641
hg19157641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv266n111
Supporting Variantsnssv4036902, nssv4036911, nssv4036926, nssv4036903, nssv4036900, nssv4036923, nssv4036904, nssv4036914, nssv4036924, nssv4036925, nssv4036912, nssv4036908, nssv4036917, nssv4036918, nssv4036906, nssv4036909, nssv4036927, nssv4036915, nssv4036919, nssv4036922, nssv4036921, nssv4036907, nssv4036905, nssv4036916, nssv4036901, nssv4036920, nssv4036913, nssv4036910
Samples
Known GenesADAM3A, ADAM5
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)nsv1161754
Frequency
Sample Size369
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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