A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619661



Internal ID15471556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101057356..101135475hg38UCSC Ensembl
Outerchr14:101523693..101601812hg19UCSC Ensembl
Outerchr14:100593446..100671565hg18UCSC Ensembl
Outerchr14:100593446..100671565hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg383301
hg193301
hg183301
hg173301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509551
Supporting Variants
SamplesNA10860
Known GenesMEG9, MIR154, MIR369, MIR377, MIR409, MIR410, MIR412, MIR496, MIR541, MIR656
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)nssv619661
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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