A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508472



Internal ID15824499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:96845384..96862255hg38UCSC Ensembl
Outerchr7:96474696..96491567hg19UCSC Ensembl
Outerchr7:96312632..96329503hg18UCSC Ensembl
Outerchr7:96119347..96136218hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3816872
hg1916872
hg1816872
hg1716872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617350, nssv618818, nssv619995, nssv622581
SamplesCHM, NA15510, NA18994, NA10860
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)nsv508472
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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