A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509338



Internal ID15476836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137839021..137984377hg38UCSC Ensembl
Outerchr9:140733473..140878829hg19UCSC Ensembl
Outerchr9:139853294..139998650hg18UCSC Ensembl
Outerchr9:138009310..138154666hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383438
hg193438
hg183438
hg173438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619575, nssv620934, nssv623573, nssv619574
SamplesNA15510, NA18994, NA10860
Known GenesCACNA1B
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)nsv509338
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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