A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236894



Internal ID20803934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144648601..144653000hg38UCSC Ensembl
chr7:144345694..144350093hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6430445
Supporting Variants
Samples
Known GenesTPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236894
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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