A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509375



Internal ID15825401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131310536..131379056hg38UCSC Ensembl
Outerchr10:133108799..133177319hg19UCSC Ensembl
Outerchr10:132998789..133067309hg18UCSC Ensembl
Outerchr10:132998789..133067309hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
hg173455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621121
SamplesNA15510
Known GenesTCERG1L
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)nsv509375
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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