A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623204



Internal ID21571509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108458275..108458275hg38UCSC Ensembl
chr2:109074731..109074731hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg386106
hg196106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107488
SamplesHG00731
Known GenesGCC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623204
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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