A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457204



Internal ID15170583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74592750..74655722hg38UCSC Ensembl
Innerchr15:74885091..74948063hg19UCSC Ensembl
Innerchr15:72672144..72735116hg18UCSC Ensembl
Innerchr15:72672144..72735116hg17UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3862973
hg1962973
hg1862973
hg1762973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534443
SamplesNINDS_70
Known GenesARID3B, CLK3, EDC3
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)nsv457204
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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