A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976956



Internal ID22751891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45498379..46372600hg38UCSC Ensembl
chr5:45498481..46372702hg19UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38874222
hg19874222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410909
Samples
Known GenesHCN1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976956
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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