A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971279



Internal ID22746214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21590269..22770846hg38UCSC Ensembl
chr16:21601590..22782167hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381180578
hg191180578
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383183
Samples
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC653786, METTL9, MIR548AA2, MIR548D2, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971279
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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