A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621139



Internal ID21569444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30357149..30357149hg38UCSC Ensembl
chr2:30580015..30580015hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113048
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621139
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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