A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161477



Internal ID18956670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:946204..1076611hg38UCSC Ensembl
Outerchr7:928825..1077800hg38UCSC Ensembl
Innerchr7:985840..1116247hg19UCSC Ensembl
Outerchr7:968461..1117436hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38148976
hg19148976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035264
Samples
Known GenesADAP1, C7orf50, COX19, CYP2W1, GPR146, MIR339
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)nsv1161477
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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