A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619575



Internal ID15471470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137902532..137984377hg38UCSC Ensembl
Outerchr9:140796984..140878829hg19UCSC Ensembl
Outerchr9:139916805..139998650hg18UCSC Ensembl
Outerchr9:138072821..138154666hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384238
hg194238
hg184238
hg174238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509338
Supporting Variants
SamplesNA10860
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)nssv619575
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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