A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952919



Internal ID22681330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117121..72117121hg38UCSC Ensembl
chr5:71412948..71412948hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416767
Samples
Known GenesMAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952919
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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