A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947981



Internal ID22723473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232979589..232979589hg38UCSC Ensembl
chr2:233844299..233844299hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391519
Samples
Known GenesNGEF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947981
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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