A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535139



Internal ID15155366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66174053..66538654hg38UCSC Ensembl
Innerchr18:63841290..64205891hg19UCSC Ensembl
Innerchr18:61992270..62356871hg18UCSC Ensembl
Innerchr18:61992270..62356871hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38364602
hg19364602
hg18364602
hg17364602
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458104
Supporting Variants
Samples1780854103_A
Known GenesCDH19
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)nssv535139
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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