A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578004



Internal ID21526465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84909504..84909957hg38UCSC Ensembl
chr2:85136628..85137081hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113794
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578004
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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