A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508476



Internal ID15824503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113774976..113783897hg38UCSC Ensembl
Outerchr7:113415031..113423952hg19UCSC Ensembl
Outerchr7:113202267..113211188hg18UCSC Ensembl
Outerchr7:113008982..113017903hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388922
hg198922
hg188922
hg178922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622583, nssv619999, nssv617351
SamplesCHM, NA15510, NA18994
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)nsv508476
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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