A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509753



Internal ID15477251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55738951..55799012hg38UCSC Ensembl
Outerchr19:56250317..56310378hg19UCSC Ensembl
Outerchr19:60942129..61002190hg18UCSC Ensembl
Outerchr19:60942129..61002190hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386905
hg196905
hg186905
hg176905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619755
SamplesNA10860
Known GenesNLRP11, RFPL4A, RFPL4AL1
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)nsv509753
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer