A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508997



Internal ID15476495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8044488..8129461hg38UCSC Ensembl
Outerchr4:8046215..8131188hg19UCSC Ensembl
Outerchr4:8097115..8182088hg18UCSC Ensembl
Outerchr4:8164286..8249259hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387744
hg197744
hg187744
hg177744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619371
SamplesNA10860
Known GenesABLIM2
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)nsv508997
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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