A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968030



Internal ID22742965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151667542..151681541hg38UCSC Ensembl
chr1:151640018..151654017hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3814000
hg1914000
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358512
Samples
Known GenesSNX27
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968030
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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