A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510621



Internal ID15826645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98580445..98625170hg38UCSC Ensembl
Outerchr13:99232699..99277424hg19UCSC Ensembl
Outerchr13:98030700..98075425hg18UCSC Ensembl
Outerchr13:98030700..98075425hg17UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3844726
hg1944726
hg1844726
hg1744726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622677, nssv620068
SamplesNA15510, NA18994
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)nsv510621
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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