A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623409



Internal ID15821982
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
hg383769
hg193769
hg183769
hg173769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508999
Supporting Variants
SamplesNA18994
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)nssv623409
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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