A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620147



Internal ID15472816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112030892..112158412hg38UCSC Ensembl
Outerchr10:113790650..113918170hg19UCSC Ensembl
Outerchr10:113780640..113908160hg18UCSC Ensembl
Outerchr10:113780640..113908160hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38127521
hg19127521
hg18127521
hg17127521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508608
Supporting Variants
SamplesNA15510
Known GenesGPAM
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)nssv620147
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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