A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621048



Internal ID15473712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3108407..3114072hg38UCSC Ensembl
Outerchr18:3108405..3114070hg19UCSC Ensembl
Outerchr18:3098405..3104070hg18UCSC Ensembl
Outerchr18:3098405..3104070hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383747
hg193747
hg183747
hg173747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509681
Supporting Variants
SamplesNA15510
Known GenesMYOM1
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)nssv621048
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