A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465956



Internal ID15526021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141269984..141423771hg38UCSC Ensembl
Innerchr8:142280083..142433871hg19UCSC Ensembl
Innerchr8:142349265..142503053hg18UCSC Ensembl
Innerchr8:142349265..142503053hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38153788
hg19153789
hg18153789
hg17153789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541626
Samples1780862071_A
Known GenesGPR20, LOC731779, PTP4A3
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)nsv465956
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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