A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197143



Internal ID20764183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7107797..7113948hg38UCSC Ensembl
chr18:7107796..7113947hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg386152
hg196152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520090
Supporting Variants
Samples
Known GenesLAMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197143
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00092


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