A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458301



Internal ID15518366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76119123..76143976hg38UCSC Ensembl
Innerchr18:73831078..73855931hg19UCSC Ensembl
Innerchr18:71960066..71984919hg18UCSC Ensembl
Innerchr18:71960066..71984919hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3824854
hg1924854
hg1824854
hg1724854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535261
Samples1780854288_A
Known GenesLOC339298
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)nsv458301
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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