A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462061



Internal ID15175440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6463370..6520836hg38UCSC Ensembl
Innerchr1:6523430..6580896hg19UCSC Ensembl
Innerchr1:6446017..6503483hg18UCSC Ensembl
Innerchr1:6457696..6515162hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3857467
hg1957467
hg1857467
hg1757467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538332
SamplesHGDP00614
Known GenesPLEKHG5, TNFRSF25
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)nsv462061
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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