A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975960



Internal ID22750895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227387893..227608868hg38UCSC Ensembl
chr2:228252609..228473584hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38220976
hg19220976
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403444
Samples
Known GenesAGFG1, MIR5703
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975960
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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