A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5911583



Internal ID22686798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50450225..50450293hg38UCSC Ensembl
chr7:50517923..50517991hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435456
Samples
Known GenesFIGNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5911583
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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