A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508468



Internal ID15824495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91553212..91616894hg38UCSC Ensembl
Outerchr7:91182527..91246209hg19UCSC Ensembl
Outerchr7:91020463..91084145hg18UCSC Ensembl
Outerchr7:90827178..90890860hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3863683
hg1963683
hg1863683
hg1763683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617349, nssv619994
SamplesCHM, NA15510
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)nsv508468
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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