A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6578670



Internal ID20951741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21590269..22770847hg38UCSC Ensembl
chr16:21601590..22782168hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381180579
hg191180579
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2728n223
Supporting Variantsnssv18239257
Samples
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC653786, METTL9, MIR548AA2, MIR548D2, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6578670
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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