A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623689



Internal ID15475576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:19055725..19055725hg38UCSC Ensembl
Outerchr16:19067047..19067047hg19UCSC Ensembl
Outerchr16:18974548..18974548hg18UCSC Ensembl
Outerchr16:18974548..18974548hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38136990
hg19136990
hg18136990
hg17136990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509603
Supporting Variants
SamplesNA18994
Known GenesTMC7
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)nssv623689
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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