A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970025



Internal ID22744960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313199..51545140hg38UCSC Ensembl
chr1:51778871..52010812hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38231942
hg19231942
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375607
Samples
Known GenesEPS15, TTC39A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970025
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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