A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510992



Internal ID15478486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45881821..46142656hg38UCSC Ensembl
Outerchr10:51453166..51714005hg19UCSC Ensembl
Outerchr10:51123172..51384011hg18UCSC Ensembl
Outerchr10:51123172..51384011hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38260836
hg19260840
hg18260840
hg17260840
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621629
SamplesNA15510
Known GenesAGAP7, MSMB, NCOA4, TIMM23
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)nsv510992
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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