A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619503



Internal ID15818084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155856082..155902204hg38UCSC Ensembl
Outerchr7:155648776..155694898hg19UCSC Ensembl
Outerchr7:155341537..155387659hg18UCSC Ensembl
Outerchr7:155148252..155194374hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385190
hg195190
hg185190
hg175190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509228
Supporting Variants
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)nssv619503
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