A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575657



Internal ID21524088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130868236..130868362hg38UCSC Ensembl
chr3:130587080..130587206hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17133292
SamplesHG00513
Known GenesATP2C1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575657
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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