A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509372



Internal ID15825398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127787732..127826956hg38UCSC Ensembl
Outerchr10:129585996..129625220hg19UCSC Ensembl
Outerchr10:129475986..129515210hg18UCSC Ensembl
Outerchr10:129475986..129515210hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383306
hg193306
hg183306
hg173306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619804
SamplesNA10860
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)nsv509372
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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