A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535137



Internal ID15157469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:65715200..68002467hg38UCSC Ensembl
Innerchr18:63382436..65669704hg19UCSC Ensembl
Innerchr18:61533416..63820684hg18UCSC Ensembl
Innerchr18:61533416..63820684hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg382287268
hg192287269
hg182287269
hg172287269
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458102
Supporting Variants
Samples1780862576_A
Known GenesCDH19, CDH7, DSEL, LOC643542, MIR5011
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)nssv535137
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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