A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550983



Internal ID22419901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16210630..18436487hg38UCSC Ensembl
chr16:16304487..18527500hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382225858
hg192223014
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458688, nssv14466421
SamplesHG00512, HG00513
Known GenesABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NOMO3, NPIPA7, NPIPA8, PKD1P1, XYLT1
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550983
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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