A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160536



Internal ID18955959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25335514hg38UCSC Ensembl
Outerchr1:25256850..25335721hg38UCSC Ensembl
Innerchr1:25593128..25662005hg19UCSC Ensembl
Outerchr1:25583341..25662212hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3878872
hg1978872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026312, nssv4026335, nssv4026357, nssv4026324, nssv4026346, nssv4026368, nssv4026301
Samples
Known GenesRHD
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)nsv1160536
Frequency
Sample Size369
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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