A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510934



Internal ID15826956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99529305..99563003hg38UCSC Ensembl
Outerchr13:100181559..100215257hg19UCSC Ensembl
Outerchr13:98979560..99013258hg18UCSC Ensembl
Outerchr13:98979560..99013258hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3833699
hg1933699
hg1833699
hg1733699
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621623
SamplesNA15510
Known GenesTM9SF2
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)nsv510934
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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