A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619735



Internal ID15818316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79028287..79077238hg38UCSC Ensembl
Outerchr18:76788287..76837238hg19UCSC Ensembl
Outerchr18:74889275..74938226hg18UCSC Ensembl
Outerchr18:74889275..74938226hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383443
hg193443
hg183443
hg173443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509704
Supporting Variants
SamplesNA10860
Known GenesATP9B
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)nssv619735
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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