A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510632



Internal ID15826656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:38399109..38470723hg38UCSC Ensembl
Outerchr14:38868313..38939927hg19UCSC Ensembl
Outerchr14:37938064..38009678hg18UCSC Ensembl
Outerchr14:37938064..38009678hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3871615
hg1971615
hg1871615
hg1771615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618913
SamplesNA10860
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)nsv510632
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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