A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618108



Internal ID15817263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:85909573..85932289hg38UCSC Ensembl
Outerchr14:86375917..86398633hg19UCSC Ensembl
Outerchr14:85445670..85468386hg18UCSC Ensembl
Outerchr14:85445670..85468386hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg386152
hg196152
hg186152
hg176152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509542
Supporting Variants
SamplesCHM
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)nssv618108
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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