A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925646



Internal ID22700873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112443345..112443463hg38UCSC Ensembl
chr7:112083400..112083518hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448344
Samples
Known GenesIFRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925646
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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