A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510733



Internal ID15826758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:25244894..25293839hg38UCSC Ensembl
Outerchr18:22824858..22873803hg19UCSC Ensembl
Outerchr18:21078856..21127801hg18UCSC Ensembl
Outerchr18:21078856..21127801hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3848946
hg1948946
hg1848946
hg1748946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622732
SamplesNA18994
Known GenesZNF521
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)nsv510733
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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