A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5565443



Internal ID21513756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38844335..38844676hg38UCSC Ensembl
chr2:39071477..39071818hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113259
SamplesHG00731
Known GenesDHX57
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5565443
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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