A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462478



Internal ID15522543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146242909..146307732hg38UCSC Ensembl
Innerchr5:145622472..145687295hg19UCSC Ensembl
Innerchr5:145602665..145667488hg18UCSC Ensembl
Innerchr5:145602665..145667488hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3864824
hg1964824
hg1864824
hg1764824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538632
Samples1780862304_A
Known GenesRBM27
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)nsv462478
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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