A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222355



Internal ID20789395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103134521..103136136hg38UCSC Ensembl
chr7:102774968..102776583hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381616
hg191616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6611413
Supporting Variants
Samples
Known GenesNAPEPLD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222355
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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