A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510598



Internal ID15826622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29902249..29968661hg38UCSC Ensembl
Outerchr13:30476386..30542798hg19UCSC Ensembl
Outerchr13:29374386..29440798hg18UCSC Ensembl
Outerchr13:29374386..29440798hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3866413
hg1966413
hg1866413
hg1766413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620057
SamplesNA15510
Known GenesLINC00544, LINC00572
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)nsv510598
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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