A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458089



Internal ID15171468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58470593..58494881hg38UCSC Ensembl
Innerchr18:56137825..56162113hg19UCSC Ensembl
Innerchr18:54288805..54313093hg18UCSC Ensembl
Innerchr18:54288805..54313093hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3824289
hg1924289
hg1824289
hg1724289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535127
SamplesNINDS_198
Known GenesALPK2
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)nsv458089
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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