A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619665



Internal ID15818246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104491416..104511894hg38UCSC Ensembl
Outerchr14:104957753..104978231hg19UCSC Ensembl
Outerchr14:104028798..104049276hg18UCSC Ensembl
Outerchr14:104028798..104049276hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg385816
hg195816
hg185816
hg175816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509555
Supporting Variants
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)nssv619665
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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