A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462115



Internal ID8489162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33935838..33968785hg38UCSC Ensembl
Innerchr5:33935943..33968890hg19UCSC Ensembl
Innerchr5:33971700..34004647hg18UCSC Ensembl
Innerchr5:33971700..34004647hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3832948
hg1932948
hg1832948
hg1732948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538367
Samples1780854338_A
Known GenesRXFP3, SLC45A2
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)nsv462115
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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