A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458014



Internal ID15171393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3748286..3801031hg38UCSC Ensembl
Innerchr18:3748286..3801031hg19UCSC Ensembl
Innerchr18:3738286..3791031hg18UCSC Ensembl
Innerchr18:3738286..3791031hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3852746
hg1952746
hg1852746
hg1752746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535083
Samples1780854081_A
Known GenesDLGAP1
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)nsv458014
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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