A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509027



Internal ID15825053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182796576..182874236hg38UCSC Ensembl
Outerchr4:183717729..183795389hg19UCSC Ensembl
Outerchr4:183954723..184032383hg18UCSC Ensembl
Outerchr4:184092878..184170538hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg387137
hg197137
hg187137
hg177137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619390
SamplesNA10860
Known GenesTENM3
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)nsv509027
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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