A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948721



Internal ID22724184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107723537..107723537hg38UCSC Ensembl
chr1:108266159..108266159hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365919
Samples
Known GenesVAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948721
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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