A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510579



Internal ID15478075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45305226..45424938hg38UCSC Ensembl
Outerchr13:45879361..45999073hg19UCSC Ensembl
Outerchr13:44777361..44897073hg18UCSC Ensembl
Outerchr13:44777361..44897073hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38119713
hg19119713
hg18119713
hg17119713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620058
SamplesNA15510
Known GenesSLC25A30, SNORA31, TPT1, TPT1-AS1
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)nsv510579
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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