A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439425



Internal ID22497295
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 StatusS
Merged Variantsnsv5975449
Supporting Variants
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)nssv17439425
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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