A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509704



Internal ID15825730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79012881..79077238hg38UCSC Ensembl
Outerchr18:76772881..76837238hg19UCSC Ensembl
Outerchr18:74873869..74938226hg18UCSC Ensembl
Outerchr18:74873869..74938226hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3814143
hg1914143
hg1814143
hg1714143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619735, nssv619734, nssv623738
SamplesNA18994, NA10860
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)nsv509704
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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