A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509325



Internal ID15825351
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
hg385625
hg195625
hg185625
hg175625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619562, nssv623568
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)nsv509325
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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