A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568956



Internal ID21517309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128418248..128419088hg38UCSC Ensembl
chr2:129175822..129176662hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108837
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568956
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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