A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508435



Internal ID15480111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152702418..152712779hg38UCSC Ensembl
Outerchr6:153023553..153033914hg19UCSC Ensembl
Outerchr6:153065246..153075607hg18UCSC Ensembl
Outerchr6:153115667..153126028hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3810362
hg1910362
hg1810362
hg1710362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619984, nssv618802, nssv622560
SamplesNA15510, NA18994, NA10860
Known GenesMYCT1
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)nsv508435
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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