A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535108



Internal ID15156023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37462919..37487164hg38UCSC Ensembl
Innerchr18:35042882..35067127hg19UCSC Ensembl
Innerchr18:33296880..33321125hg18UCSC Ensembl
Innerchr18:33296880..33321125hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3824246
hg1924246
hg1824246
hg1724246
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458055
Supporting Variants
Samples1780854492_A
Known GenesCELF4
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)nssv535108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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