A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509555



Internal ID15825581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104417408..104511894hg38UCSC Ensembl
Outerchr14:104883745..104978231hg19UCSC Ensembl
Outerchr14:103954790..104049276hg18UCSC Ensembl
Outerchr14:103954790..104049276hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg384035
hg194035
hg184035
hg174035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619664, nssv619665
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)nsv509555
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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