A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462046



Internal ID15522111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28806149..28902719hg38UCSC Ensembl
Innerchr5:28806256..28902826hg19UCSC Ensembl
Innerchr5:28842013..28938583hg18UCSC Ensembl
Innerchr5:28842013..28938583hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3896571
hg1996571
hg1896571
hg1796571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv697n27
Supporting Variantsnssv538330
SamplesNINDS_189
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)nsv462046
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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