A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570127



Internal ID21518491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177660080..177660131hg38UCSC Ensembl
chr2:178524808..178524859hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109848
SamplesHG00512
Known GenesPDE11A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570127
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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