A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510623



Internal ID15826647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:107253087..107330382hg38UCSC Ensembl
Outerchr13:107905435..107982730hg19UCSC Ensembl
Outerchr13:106703436..106780731hg18UCSC Ensembl
Outerchr13:106703436..106780731hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3877296
hg1977296
hg1877296
hg1777296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618907
SamplesNA10860
Known GenesFAM155A
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)nsv510623
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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