A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535116



Internal ID15504337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49140742..49191426hg38UCSC Ensembl
Innerchr18:46667112..46717796hg19UCSC Ensembl
Innerchr18:44921110..44971794hg18UCSC Ensembl
Innerchr18:44921110..44971794hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3850685
hg1950685
hg1850685
hg1750685
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458068
Supporting Variants
Samples1782681099_A
Known GenesDYM
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)nssv535116
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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