A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621197



Internal ID15473861
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
hg383152
hg193152
hg183152
hg173152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508912
Supporting Variants
SamplesNA15510
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)nssv621197
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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