A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969606



Internal ID22744541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23219486..23319833hg38UCSC Ensembl
chr8:23076999..23177346hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38100348
hg19100348
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436028
Samples
Known GenesCHMP7, LOC389641, LOXL2, R3HCC1, TNFRSF10A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969606
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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