A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975135



Internal ID22750070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10627041..12196370hg38UCSC Ensembl
chr18:10627038..12196369hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381569330
hg191569332
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371520
Samples
Known GenesANKRD62, CHMP1B, GNAL, IMPA2, MIR7153, MPPE1, PIEZO2, SLC35G4
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975135
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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