A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619360



Internal ID15471255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1190955..1270497hg38UCSC Ensembl
Outerchr4:1184743..1264285hg19UCSC Ensembl
Outerchr4:1174743..1254285hg18UCSC Ensembl
Outerchr4:1174573..1254115hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384828
hg194828
hg184828
hg174828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508988
Supporting Variants
SamplesNA10860
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, SPON2
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)nssv619360
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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