A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508912



Internal ID15476410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38583965..38651948hg38UCSC Ensembl
Outerchr3:38625456..38693439hg19UCSC Ensembl
Outerchr3:38600460..38668443hg18UCSC Ensembl
Outerchr3:38600460..38668443hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg386125
hg196125
hg186125
hg176125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621197, nssv618013
SamplesCHM, NA15510
Known GenesSCN5A
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508912
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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