A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623704



Internal ID15822277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85956828..85979700hg38UCSC Ensembl
Outerchr16:85990434..86013306hg19UCSC Ensembl
Outerchr16:84547935..84570807hg18UCSC Ensembl
Outerchr16:84547935..84570807hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg383376
hg193376
hg183376
hg173376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509636
Supporting Variants
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)nssv623704
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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