A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462585



Internal ID15175964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180604131..180642852hg38UCSC Ensembl
Innerchr5:180031131..180069852hg19UCSC Ensembl
Innerchr5:179963737..180002458hg18UCSC Ensembl
Innerchr5:179963737..180002458hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3838722
hg1938722
hg1838722
hg1738722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538712
Samples1780862300_A
Known GenesFLT4
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)nsv462585
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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