A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415972



Internal ID22473842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294667..8294667hg38UCSC Ensembl
chr4:8296394..8296394hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964872
Supporting Variants
Samples
Known GenesHTRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415972
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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