A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465952



Internal ID15179331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140610939..140669718hg38UCSC Ensembl
Innerchr8:141621038..141679817hg19UCSC Ensembl
Innerchr8:141690220..141748999hg18UCSC Ensembl
Innerchr8:141690220..141748999hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858780
hg1958780
hg1858780
hg1758780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541624
Samples1780862444_A
Known GenesAGO2, PTK2, RNU6-31P
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)nsv465952
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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