A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510595



Internal ID15826619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:37470331..37504227hg38UCSC Ensembl
Outerchr13:38044468..38078364hg19UCSC Ensembl
Outerchr13:36942468..36976364hg18UCSC Ensembl
Outerchr13:36942468..36976364hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3833897
hg1933897
hg1833897
hg1733897
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622399
SamplesNA10860
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)nsv510595
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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