A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509550



Internal ID15477048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100948688..100968403hg38UCSC Ensembl
Outerchr14:101415025..101434740hg19UCSC Ensembl
Outerchr14:100484778..100504493hg18UCSC Ensembl
Outerchr14:100484778..100504493hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg383086
hg193086
hg183086
hg173086
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619660
SamplesNA10860
Known GenesSNORD114-1, SNORD114-10, SNORD114-11, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
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)nsv509550
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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