A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623743



Internal ID15475630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2795594..2870101hg38UCSC Ensembl
Outerchr19:2795592..2870099hg19UCSC Ensembl
Outerchr19:2746592..2821099hg18UCSC Ensembl
Outerchr19:2746592..2821099hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383748
hg193748
hg183748
hg173748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509715
Supporting Variants
SamplesNA18994
Known GenesTHOP1, ZNF554, ZNF555, ZNF556
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)nssv623743
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