A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508445



Internal ID15480121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7150887..7221467hg38UCSC Ensembl
Outerchr7:7190518..7261098hg19UCSC Ensembl
Outerchr7:7157043..7227623hg18UCSC Ensembl
Outerchr7:6963758..7034338hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3870581
hg1970581
hg1870581
hg1770581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618804
SamplesNA10860
Known GenesC1GALT1
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)nsv508445
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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