A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509000



Internal ID15476498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:25414430..25548408hg38UCSC Ensembl
Outerchr4:25416052..25550030hg19UCSC Ensembl
Outerchr4:25025150..25159128hg18UCSC Ensembl
Outerchr4:25092321..25226299hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385828
hg195828
hg185828
hg175828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620786, nssv623410
SamplesNA18994, NA15510
Known GenesANAPC4
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)nsv509000
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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