A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508988



Internal ID15476486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1190955..1358870hg38UCSC Ensembl
Outerchr4:1184743..1352658hg19UCSC Ensembl
Outerchr4:1174743..1342658hg18UCSC Ensembl
Outerchr4:1174573..1342488hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv619360, nssv619361
SamplesNA10860
Known GenesCTBP1, CTBP1-AS, CTBP1-AS2, LOC100130872, MAEA, SPON2, UVSSA
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)nsv508988
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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