A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510587



Internal ID15826611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:61405620..61419920hg38UCSC Ensembl
Outerchr13:61979753..61994053hg19UCSC Ensembl
Outerchr13:60877754..60892054hg18UCSC Ensembl
Outerchr13:60877754..60892054hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3814301
hg1914301
hg1814301
hg1714301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620061
SamplesNA15510
Known GenesPCDH20
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)nsv510587
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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