A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900662



Internal ID22675806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55527620..55561224hg38UCSC Ensembl
chr5:54823448..54857052hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3833605
hg1933605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424378
Samples
Known GenesPPAP2A, RNF138P1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900662
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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