A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4041046



Internal ID18953182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681762..109703659hg38UCSC Ensembl
Outerchr1:109679105..109707613hg38UCSC Ensembl
Innerchr1:110224384..110246281hg19UCSC Ensembl
Outerchr1:110221727..110250235hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3828509
hg1928509
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161373
Supporting Variants
Samples
Known GenesGSTM1, GSTM2
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)nssv4041046
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer