A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461056



Internal ID15521121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343425..191355439hg38UCSC Ensembl
Innerchr3:191061214..191073228hg19UCSC Ensembl
Innerchr3:192543908..192555922hg18UCSC Ensembl
Innerchr3:192543916..192555930hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812015
hg1912015
hg1812015
hg1712015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537506
SamplesNINDS_50
Known GenesCCDC50
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)nsv461056
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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