A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613400



Internal ID21561705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48585603..48585603hg38UCSC Ensembl
chr3:48623036..48623036hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135666
SamplesHG03009
Known GenesCOL7A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613400
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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