A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233241



Internal ID20800281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42223801..42237000hg38UCSC Ensembl
chr7:42263400..42276599hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3813200
hg1913200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6614893
Supporting Variants
Samples
Known GenesGLI3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233241
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00084


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