A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623766



Internal ID15822339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56911067..56968556hg38UCSC Ensembl
Outerchr19:57422435..57479924hg19UCSC Ensembl
Outerchr19:62114247..62171736hg18UCSC Ensembl
Outerchr19:62114247..62171736hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg384312
hg194312
hg184312
hg174312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509755
Supporting Variants
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)nssv623766
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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