A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461055



Internal ID15174434
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632n27
Supporting Variantsnssv537505
SamplesNINDS_232
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)nsv461055
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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