A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483530



Internal ID260966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48085184..48168634hg38UCSC Ensembl
chr10:49293227..49376677hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3883451
hg1983451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035051
Samples
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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