A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509431



Internal ID15825457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74635271..74736208hg38UCSC Ensembl
Outerchr11:74346316..74447253hg19UCSC Ensembl
Outerchr11:74023964..74124901hg18UCSC Ensembl
Outerchr11:74023964..74124901hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg384583
hg194583
hg184583
hg174583
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623470
SamplesNA18994
Known GenesCHRDL2, MIR4696, POLD3
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)nsv509431
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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