A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978372



Internal ID22753307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174267797..174270693hg38UCSC Ensembl
chr2:175132525..175135421hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394699
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978372
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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