A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976537



Internal ID22751472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79755840..79761371hg38UCSC Ensembl
chr5:79051663..79057194hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385532
hg195532
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419914
Samples
Known GenesCMYA5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976537
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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