A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926294



Internal ID22701521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2163486..2219343hg38UCSC Ensembl
chr7:2203121..2258978hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3855858
hg1955858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435704
Samples
Known GenesMAD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926294
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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