A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510647



Internal ID15826671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83283119..83297667hg38UCSC Ensembl
Outerchr14:83749463..83764011hg19UCSC Ensembl
Outerchr14:82819216..82833764hg18UCSC Ensembl
Outerchr14:82819216..82833764hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3814549
hg1914549
hg1814549
hg1714549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622689
SamplesNA18994
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)nsv510647
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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