A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954169



Internal ID22729423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127777012..127777012hg38UCSC Ensembl
chr3:127495855..127495855hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408004
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954169
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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