A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462526



Internal ID15175905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172616312..172652886hg38UCSC Ensembl
Innerchr5:172043315..172079889hg19UCSC Ensembl
Innerchr5:171975920..172012494hg18UCSC Ensembl
Innerchr5:171975920..172012494hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3836575
hg1936575
hg1836575
hg1736575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538667
Samples1780862094_A
Known GenesNEURL1B
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)nsv462526
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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