A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509026



Internal ID15825052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:181234123..181248494hg38UCSC Ensembl
Outerchr4:182155276..182169647hg19UCSC Ensembl
Outerchr4:182392270..182406641hg18UCSC Ensembl
Outerchr4:182530425..182544796hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3810731
hg1910731
hg1810731
hg1710731
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618030, nssv623422
SamplesCHM, NA18994
Known Genes
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)nsv509026
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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