A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508697



Internal ID15480373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228352336..228434913hg38UCSC Ensembl
Outerchr1:228540037..228622614hg19UCSC Ensembl
Outerchr1:226606660..226689237hg18UCSC Ensembl
Outerchr1:224846772..224929349hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3882578
hg1982578
hg1882578
hg1782578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620154
SamplesNA15510
Known GenesHIST3H3, MIR6742, OBSCN, TRIM11, TRIM17
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)nsv508697
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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