A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429402



Internal ID22487272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88468117..88468117hg38UCSC Ensembl
chr4:89389268..89389268hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961566
Supporting Variants
Samples
Known GenesHERC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429402
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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