A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161606



Internal ID18957362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:124932751..124946920hg38UCSC Ensembl
Outerchr7:124929688..124950646hg38UCSC Ensembl
Innerchr7:124572805..124586974hg19UCSC Ensembl
Outerchr7:124569742..124590700hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3820959
hg1920959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035704
Samples
Known GenesPOT1
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)nsv1161606
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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