A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509355



Internal ID15825381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:56559502..56583880hg38UCSC Ensembl
Outerchr10:58319262..58343640hg19UCSC Ensembl
Outerchr10:57989268..58013646hg18UCSC Ensembl
Outerchr10:57989268..58013646hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383896
hg193896
hg183896
hg173896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621014, nssv623657, nssv619669
SamplesNA15510, NA18994, NA10860
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)nsv509355
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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