A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509009



Internal ID15825035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88151095..88189719hg38UCSC Ensembl
Outerchr4:89072247..89110871hg19UCSC Ensembl
Outerchr4:89291271..89329895hg18UCSC Ensembl
Outerchr4:89429426..89468050hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386114
hg196114
hg186114
hg176114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619377
SamplesNA10860
Known GenesABCG2
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)nsv509009
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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