A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439495



Internal ID218031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240915440..240920986hg38UCSC Ensembl
chr1:241078740..241084286hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385547
hg195547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899463
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439495
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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