A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508474



Internal ID15824501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102078612..102109376hg38UCSC Ensembl
Outerchr7:101721892..101752656hg19UCSC Ensembl
Outerchr7:101508612..101539376hg18UCSC Ensembl
Outerchr7:101315327..101346091hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3830765
hg1930765
hg1830765
hg1730765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618819
SamplesNA10860
Known GenesCUX1
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)nsv508474
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