A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456066



Internal ID15516131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92042328..92232117hg38UCSC Ensembl
Innerchr13:92694581..92884370hg19UCSC Ensembl
Innerchr13:91492582..91682371hg18UCSC Ensembl
Innerchr13:91492582..91682371hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38189790
hg19189790
hg18189790
hg17189790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533478
SamplesHGDP01027
Known GenesGPC5
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)nsv456066
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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