A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461949



Internal ID15522014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9899971..9924060hg38UCSC Ensembl
Innerchr5:9900083..9924172hg19UCSC Ensembl
Innerchr5:9953083..9977172hg18UCSC Ensembl
Innerchr5:9953083..9977172hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3824090
hg1924090
hg1824090
hg1724090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv690n27
Supporting Variantsnssv538256
Samples1780854464_A
Known GenesLOC285692
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)nsv461949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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