A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730208



Internal ID21401019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16118120..18828979hg38UCSC Ensembl
chr16:16211977..18840301hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382710860
hg192628325
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257635, nssv16257661, nssv16256434, nssv16257280, nssv16257437, nssv16258266, nssv16258833, nssv16257618, nssv16258138
SamplesHG00512, HG00731, HG00732, HG00513
Known GenesABCC1, ABCC6, ABCC6P1, ARL6IP1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NOMO3, NPIPA7, NPIPA8, PKD1P1, RPS15A, SMG1, XYLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730208
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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