A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509307



Internal ID15825333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88196812..88213475hg38UCSC Ensembl
Outerchr9:90811727..90828390hg19UCSC Ensembl
Outerchr9:90001547..90018210hg18UCSC Ensembl
Outerchr9:88041281..88057944hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3811451
hg1911451
hg1811451
hg1711451
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623561, nssv619551
SamplesNA18994, NA10860
Known Genes
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)nsv509307
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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