A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509343



Internal ID15476841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11269485..11313391hg38UCSC Ensembl
Outerchr10:11311448..11355354hg19UCSC Ensembl
Outerchr10:11351454..11395360hg18UCSC Ensembl
Outerchr10:11351454..11395360hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg382225
hg192225
hg182225
hg172225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619321, nssv623783
SamplesNA18994, NA10860
Known GenesCELF2
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)nsv509343
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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