A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510650



Internal ID15478146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96772152..96858884hg38UCSC Ensembl
Outerchr14:97238489..97325221hg19UCSC Ensembl
Outerchr14:96308242..96394974hg18UCSC Ensembl
Outerchr14:96308242..96394974hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3886733
hg1986733
hg1886733
hg1786733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618922
SamplesNA10860
Known GenesVRK1
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)nsv510650
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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