A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541667



Internal ID15156267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144416180..144504344hg38UCSC Ensembl
Innerchr8:145641564..145729727hg19UCSC Ensembl
Innerchr8:145612372..145700535hg18UCSC Ensembl
Innerchr8:145612372..145700535hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888165
hg1988164
hg1888164
hg1788164
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466019
Supporting Variants
Samples1780862014_A
Known GenesCYHR1, FOXH1, GPT, KIFC2, LOC100287098, MIR6893, PPP1R16A, SLC39A4, TONSL, VPS28
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541667
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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