A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509336



Internal ID15476834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137698788..137735321hg38UCSC Ensembl
Outerchr9:140593240..140629773hg19UCSC Ensembl
Outerchr9:139713061..139749594hg18UCSC Ensembl
Outerchr9:137869077..137905610hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384876
hg194876
hg184876
hg174876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623572, nssv618079, nssv619572, nssv620933
SamplesCHM, NA18994, NA15510, NA10860
Known GenesEHMT1
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)nsv509336
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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