A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462490



Internal ID15522555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:152133822..152148270hg38UCSC Ensembl
Innerchr5:151513383..151527831hg19UCSC Ensembl
Innerchr5:151493576..151508024hg18UCSC Ensembl
Innerchr5:151493576..151508024hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3814449
hg1914449
hg1814449
hg1714449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538643
Samples1780854205_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)nsv462490
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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