A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623568



Internal ID15822141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129390628..129463218hg38UCSC Ensembl
Outerchr9:132152907..132225497hg19UCSC Ensembl
Outerchr9:131192728..131265318hg18UCSC Ensembl
Outerchr9:129232461..129305051hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385285
hg195285
hg185285
hg175285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509325
Supporting Variants
SamplesNA18994
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)nssv623568
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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