A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958219



Internal ID22733295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212371259..212371259hg38UCSC Ensembl
chr1:212544601..212544601hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351427
Samples
Known GenesTMEM206
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958219
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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