A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508987



Internal ID15825013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:838283..917815hg38UCSC Ensembl
Outerchr4:832071..911603hg19UCSC Ensembl
Outerchr4:822071..901603hg18UCSC Ensembl
Outerchr4:821901..901433hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384296
hg194296
hg184296
hg174296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619359
SamplesNA10860
Known GenesGAK
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)nsv508987
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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