A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617345



Internal ID15816500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112296774..112372593hg38UCSC Ensembl
Outerchr1:112839396..112915215hg19UCSC Ensembl
Outerchr1:112640919..112716738hg18UCSC Ensembl
Outerchr1:112551438..112627257hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3875820
hg1975820
hg1875820
hg1775820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508526
Supporting Variants
SamplesCHM
Known Genes
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)nssv617345
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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