A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510720



Internal ID15478216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63809351..63908780hg38UCSC Ensembl
Outerchr17:61886711..61986140hg19UCSC Ensembl
Outerchr17:59240443..59339872hg18UCSC Ensembl
Outerchr17:59240443..59339872hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3899430
hg1999430
hg1899430
hg1799430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617431
SamplesCHM
Known GenesCSH1, CSH2, DDX42, FTSJ3, GH2, PSMC5, SMARCD2, TCAM1P
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)nsv510720
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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