A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508698



Internal ID15824725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229650321..229702849hg38UCSC Ensembl
Outerchr1:229786068..229838596hg19UCSC Ensembl
Outerchr1:227852691..227905219hg18UCSC Ensembl
Outerchr1:226092803..226145331hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3852529
hg1952529
hg1852529
hg1752529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617421, nssv622788
SamplesCHM, NA18994
Known GenesURB2
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)nsv508698
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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