A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535268



Internal ID15503876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78874566..78895783hg38UCSC Ensembl
Innerchr18:76634566..76655783hg19UCSC Ensembl
Innerchr18:74735554..74756771hg18UCSC Ensembl
Innerchr18:74735554..74756771hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3821218
hg1921218
hg1821218
hg1721218
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458312
Supporting Variants
Samples1780862444_A
Known Genes
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)nssv535268
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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