A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619357



Internal ID15471252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:587274..692615hg38UCSC Ensembl
Outerchr4:581063..686404hg19UCSC Ensembl
Outerchr4:571063..676404hg18UCSC Ensembl
Outerchr4:571063..676404hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383080
hg193080
hg183080
hg173080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508986
Supporting Variants
SamplesNA10860
Known GenesATP5I, MFSD7, MYL5, PDE6B
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)nssv619357
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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