A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508957



Internal ID15824983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139305270..139332624hg38UCSC Ensembl
Outerchr3:139024112..139051466hg19UCSC Ensembl
Outerchr3:140506802..140534156hg18UCSC Ensembl
Outerchr3:140506810..140534164hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg385584
hg195584
hg185584
hg175584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618021
SamplesCHM
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)nsv508957
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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