A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972281



Internal ID22747216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49425160..49425160hg38UCSC Ensembl
chr13:49999296..49999296hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383267
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972281
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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