A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578604



Internal ID21527075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69314155..69314226hg38UCSC Ensembl
chr3:69363306..69363377hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139522
SamplesHG00171
Known GenesFRMD4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578604
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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