A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974193



Internal ID22749128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195962345..196237115hg38UCSC Ensembl
chr3:195689216..195963986hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38274771
hg19274771
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1533n209
Supporting Variantsnssv17424904
Samples
Known GenesLINC00885, SDHAP1, SLC51A, TFRC, ZDHHC19
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974193
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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