A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564995



Internal ID21513303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69964323..69964735hg38UCSC Ensembl
chr3:70013474..70013886hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127602
SamplesHG00732
Known GenesMITF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5564995
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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