A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510615



Internal ID15826639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73489321..73534601hg38UCSC Ensembl
Outerchr13:74063458..74108738hg19UCSC Ensembl
Outerchr13:72961459..73006739hg18UCSC Ensembl
Outerchr13:72961459..73006739hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg3845281
hg1945281
hg1845281
hg1745281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620066
SamplesNA15510
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)nsv510615
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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