A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969472



Internal ID22744407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16657579..18701513hg38UCSC Ensembl
chr16:16751436..18712835hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382043935
hg191961400
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375403
Samples
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, XYLT1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969472
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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