A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130230



Internal ID21461251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109000840..109000840hg38UCSC Ensembl
chr4:109921996..109921996hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5623515
Supporting Variants
SamplesHG02818
Known GenesCOL25A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130230
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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