A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039453



Internal ID19301592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14164308..14352870hg38UCSC Ensembl
Outerchr18:14152406..14355174hg38UCSC Ensembl
Innerchr18:14164307..14352869hg19UCSC Ensembl
Outerchr18:14152405..14355173hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38202769
hg19202769
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160508
Supporting Variants
Samples
Known GenesANKRD20A5P, CYP4F35P
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)nssv4039453
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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