A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974999



Internal ID22749934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8309480..8919987hg38UCSC Ensembl
chr6:8309713..8920220hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38610508
hg19610508
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445813
Samples
Known GenesHULC, LOC100506207, SLC35B3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974999
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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