A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621056



Internal ID15473720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79454006..79579450hg38UCSC Ensembl
Outerchr18:77214006..77339450hg19UCSC Ensembl
Outerchr18:75314994..75440438hg18UCSC Ensembl
Outerchr18:75314994..75440438hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389995
hg199995
hg189995
hg179995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509707
Supporting Variants
SamplesNA15510
Known GenesNFATC1
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)nssv621056
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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