A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458303



Internal ID15518368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76467634..76484662hg38UCSC Ensembl
Innerchr18:74179590..74196618hg19UCSC Ensembl
Innerchr18:72308578..72325606hg18UCSC Ensembl
Innerchr18:72308578..72325606hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817029
hg1917029
hg1817029
hg1717029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535263
Samples1780862444_A
Known GenesZNF516
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)nsv458303
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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