A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461910



Internal ID15175289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1423790..1468172hg38UCSC Ensembl
Innerchr5:1423905..1468287hg19UCSC Ensembl
Innerchr5:1476905..1521287hg18UCSC Ensembl
Innerchr5:1476905..1521287hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3844383
hg1944383
hg1844383
hg1744383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538229
SamplesNINDS_113
Known GenesLPCAT1, SLC6A3
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)nsv461910
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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