A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510600



Internal ID15826624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34980482..34987852hg38UCSC Ensembl
Outerchr13:35554619..35561989hg19UCSC Ensembl
Outerchr13:34452619..34459989hg18UCSC Ensembl
Outerchr13:34452619..34459989hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg387371
hg197371
hg187371
hg177371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617404
SamplesCHM
Known GenesNBEA
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)nsv510600
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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