A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461344



Internal ID15521409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40681959..40776145hg38UCSC Ensembl
Innerchr4:40683976..40778162hg19UCSC Ensembl
Innerchr4:40378733..40472919hg18UCSC Ensembl
Innerchr4:40524904..40619090hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3894187
hg1994187
hg1894187
hg1794187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537740
SamplesNINDS_41
Known GenesNSUN7
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)nsv461344
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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