A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976776



Internal ID22751711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482028hg38UCSC Ensembl
chr12:21634962..21634962hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357577
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976776
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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