A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975449



Internal ID22750384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70630457..73057328hg38UCSC Ensembl
chr8:71542692..73969563hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg382426872
hg192426872
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439425
Samples
Known GenesEYA1, KCNB2, LACTB2, LOC100132891, LOC286190, LOC392232, MSC, RNU6-83P, TERF1, TRPA1, XKR9
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975449
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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