A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456590



Internal ID234653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1733290..1735863hg38UCSC Ensembl
chr7:1772926..1775499hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382574
hg192574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735616
Samples
Known GenesELFN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456590
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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