A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456080



Internal ID15169459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95291631..95362875hg38UCSC Ensembl
Innerchr13:95943885..96015129hg19UCSC Ensembl
Innerchr13:94741886..94813130hg18UCSC Ensembl
Innerchr13:94741886..94813130hg17UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3871245
hg1971245
hg1871245
hg1771245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533487
SamplesNINDS_205
Known GenesABCC4
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)nsv456080
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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