A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957912



Internal ID22733006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108459745..108459745hg38UCSC Ensembl
chr2:109076201..109076201hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390089
Samples
Known GenesGCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957912
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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