A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619734



Internal ID15818315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79012881..79028287hg38UCSC Ensembl
Outerchr18:76772881..76788287hg19UCSC Ensembl
Outerchr18:74873869..74889275hg18UCSC Ensembl
Outerchr18:74873869..74889275hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3814143
hg1914143
hg1814143
hg1714143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509704
Supporting Variants
SamplesNA10860
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)nssv619734
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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