A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952122



Internal ID22727451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113937936..113937936hg38UCSC Ensembl
chr3:113656783..113656783hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396444
Samples
Known GenesGRAMD1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952122
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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