A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580894



Internal ID21529389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143991659..143991755hg38UCSC Ensembl
chr2:144749226..144749322hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108615
SamplesHG00864
Known GenesGTDC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580894
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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