A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026357



Internal ID18943534
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160536
Supporting Variants
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)nssv4026357
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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