A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576275



Internal ID21524712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112139962..112140015hg38UCSC Ensembl
chr2:112897539..112897592hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107675
SamplesHG00732
Known GenesFBLN7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576275
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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