A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507898



Internal ID15823928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44461976..44467981hg38UCSC Ensembl
Outerchr19:44966198..44972198hg19UCSC Ensembl
Outerchr19:49658038..49664038hg18UCSC Ensembl
Outerchr19:49658038..49664038hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg386006
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619221
SamplesNA10860
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)nsv507898
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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