A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509028



Internal ID15825054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186414403..186503978hg38UCSC Ensembl
Outerchr4:187335557..187425132hg19UCSC Ensembl
Outerchr4:187572551..187662126hg18UCSC Ensembl
Outerchr4:187710706..187800281hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg389188
hg199188
hg189188
hg179188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619391
SamplesNA10860
Known GenesF11-AS1
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)nsv509028
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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