A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460994



Internal ID15521059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173511984..173581876hg38UCSC Ensembl
Innerchr3:173229774..173299666hg19UCSC Ensembl
Innerchr3:174712468..174782360hg18UCSC Ensembl
Innerchr3:174712476..174782368hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3869893
hg1969893
hg1869893
hg1769893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv628n27
Supporting Variantsnssv537450
SamplesHGDP00857
Known GenesNLGN1
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)nsv460994
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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