A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567888



Internal ID21516229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2348735..2348800hg38UCSC Ensembl
chr1:2280174..2280239hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063573
SamplesHG02818
Known GenesMORN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567888
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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