A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461998



Internal ID15522063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18676765..18726907hg38UCSC Ensembl
Innerchr5:18676874..18727016hg19UCSC Ensembl
Innerchr5:18712631..18762773hg18UCSC Ensembl
Innerchr5:18712631..18762773hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3850143
hg1950143
hg1850143
hg1750143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv693n27
Supporting Variantsnssv538299
Samples1782681169_A
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)nsv461998
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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