A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958148



Internal ID22733224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35252129..35252129hg38UCSC Ensembl
chr7:35291740..35291740hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430039
Samples
Known GenesTBX20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958148
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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