A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535269



Internal ID15503774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78951024..79022312hg38UCSC Ensembl
Innerchr18:76711024..76782312hg19UCSC Ensembl
Innerchr18:74812012..74883300hg18UCSC Ensembl
Innerchr18:74812012..74883300hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3871289
hg1971289
hg1871289
hg1771289
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458313
Supporting Variants
Samples1780862415_A
Known GenesSALL3
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)nssv535269
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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