A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968901



Internal ID22743836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237879581..237879674hg38UCSC Ensembl
chr2:238788223..238788316hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391731
Samples
Known GenesRAMP1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968901
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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