A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462248



Internal ID15522313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92082012..92111899hg38UCSC Ensembl
Innerchr5:91377829..91407716hg19UCSC Ensembl
Innerchr5:91413585..91443472hg18UCSC Ensembl
Innerchr5:91413585..91443472hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3829888
hg1929888
hg1829888
hg1729888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538460
SamplesNINDS_183
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)nsv462248
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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