A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508285



Internal ID15824312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68191557..68210508hg38UCSC Ensembl
Outerchr4:69057275..69076226hg19UCSC Ensembl
Outerchr4:68739870..68758821hg18UCSC Ensembl
Outerchr4:68886041..68904992hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3818952
hg1918952
hg1818952
hg1718952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622488, nssv619935
SamplesNA15510, NA18994
Known GenesFTLP10, TMPRSS11BNL
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)nsv508285
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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