A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957046



Internal ID22732196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126391319..126391319hg38UCSC Ensembl
chr5:125727011..125727011hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423610
Samples
Known GenesGRAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957046
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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