A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908293



Internal ID22683503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112443320..112443604hg38UCSC Ensembl
chr7:112083375..112083659hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440057
Samples
Known GenesIFRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908293
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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