A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509428



Internal ID15476926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71875077..71937297hg38UCSC Ensembl
Outerchr11:71586123..71648343hg19UCSC Ensembl
Outerchr11:71263771..71325991hg18UCSC Ensembl
Outerchr11:71263771..71325991hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3816099
hg1916099
hg1816099
hg1716099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623459
SamplesNA18994
Known GenesLOC100129216, LOC100133315, RNF121
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)nsv509428
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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