A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458302



Internal ID15518367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76458045..76484662hg38UCSC Ensembl
Innerchr18:74170001..74196618hg19UCSC Ensembl
Innerchr18:72298989..72325606hg18UCSC Ensembl
Innerchr18:72298989..72325606hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3826618
hg1926618
hg1826618
hg1726618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535262
Samples1780862586_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)nsv458302
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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