A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622730



Internal ID15821303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14538884..14567999hg38UCSC Ensembl
Outerchr18:14538883..14567998hg19UCSC Ensembl
Outerchr18:14528883..14557998hg18UCSC Ensembl
Outerchr18:14528883..14557998hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3829116
hg1929116
hg1829116
hg1729116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510732
Supporting Variants
SamplesNA18994
Known GenesPOTEC
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)nssv622730
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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