A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623752



Internal ID15822325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19720908..19787755hg38UCSC Ensembl
Outerchr19:19831717..19898564hg19UCSC Ensembl
Outerchr19:19692717..19759564hg18UCSC Ensembl
Outerchr19:19692717..19759564hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383072
hg193072
hg183072
hg173072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509726
Supporting Variants
SamplesNA18994
Known GenesLINC00663, ZNF14
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)nssv623752
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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