A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509754



Internal ID15825780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56704364..56761504hg38UCSC Ensembl
Outerchr19:57215732..57272872hg19UCSC Ensembl
Outerchr19:61907544..61964684hg18UCSC Ensembl
Outerchr19:61907544..61964684hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383642
hg193642
hg183642
hg173642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623765
SamplesNA18994
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)nsv509754
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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