A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160837



Internal ID18955844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1696479..1756619hg38UCSC Ensembl
Outerchr1:1575421..1756753hg38UCSC Ensembl
Innerchr1:1627918..1688058hg19UCSC Ensembl
Outerchr1:1510801..1688192hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38181333
hg19177392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5n111
Supporting Variantsnssv4027101
Samples
Known GenesC1orf233, CDK11A, CDK11B, MIB2, MMP23A, MMP23B, NADK, SLC35E2, SLC35E2B
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)nsv1160837
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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