A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160832



Internal ID19304269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38662929..38670533hg38UCSC Ensembl
Outerchr1:38653411..38671983hg38UCSC Ensembl
Innerchr1:39128601..39136205hg19UCSC Ensembl
Outerchr1:39119083..39137655hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3818573
hg1918573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026990, nssv4027012, nssv4027034, nssv4027001, nssv4027023, nssv4026978, nssv4026967
Samples
Known Genes
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)nsv1160832
Frequency
Sample Size369
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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