A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509207



Internal ID15825233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73923559..73983713hg38UCSC Ensembl
Outerchr7:73337889..73398043hg19UCSC Ensembl
Outerchr7:72975825..73035979hg18UCSC Ensembl
Outerchr7:72782540..72842694hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383065
hg193065
hg183065
hg173065
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619488
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)nsv509207
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