A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964872



Internal ID22739807
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 StatusM
Merged Variants
Supporting Variantsnssv17415972
Samples
Known GenesHTRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964872
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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