A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535163



Internal ID15512278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69006355..69067898hg38UCSC Ensembl
Innerchr18:66673592..66735135hg19UCSC Ensembl
Innerchr18:64824572..64886115hg18UCSC Ensembl
Innerchr18:64824572..64886115hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3861544
hg1961544
hg1861544
hg1761544
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458147
Supporting Variants
SamplesNINDS_223
Known GenesCCDC102B
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)nssv535163
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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