A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160925



Internal ID18957675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1710664..1741164hg38UCSC Ensembl
Outerchr1:1696979..1756148hg38UCSC Ensembl
Innerchr1:1642103..1672603hg19UCSC Ensembl
Outerchr1:1628418..1687587hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3859170
hg1959170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027545, nssv4027434
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2
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)nsv1160925
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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