A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462258



Internal ID15522323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:97691782..97772922hg38UCSC Ensembl
Innerchr5:97027486..97108626hg19UCSC Ensembl
Innerchr5:97053242..97134382hg18UCSC Ensembl
Innerchr5:97053242..97134382hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3881141
hg1981141
hg1881141
hg1781141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv712n27
Supporting Variantsnssv538468
Samples1780854009_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)nsv462258
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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