A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977066



Internal ID22752001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48493260..48493260hg38UCSC Ensembl
chr13:49067396..49067396hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385662
Samples
Known GenesRCBTB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977066
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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