A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508999



Internal ID15825025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14950276..14963514hg38UCSC Ensembl
Outerchr4:14951900..14965138hg19UCSC Ensembl
Outerchr4:14560998..14574236hg18UCSC Ensembl
Outerchr4:14628169..14641407hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg383414
hg193414
hg183414
hg173414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620785, nssv623409
SamplesNA15510, NA18994
Known GenesCPEB2-AS1
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)nsv508999
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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