A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160182



Internal ID18956214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17657954..18280039hg38UCSC Ensembl
Outerchr1:17655418..18282385hg38UCSC Ensembl
Innerchr1:17984449..18606533hg19UCSC Ensembl
Outerchr1:17981913..18608879hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38626968
hg19626967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026179
Samples
Known GenesACTL8, ARHGEF10L, IGSF21
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)nsv1160182
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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