A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6588358



Internal ID20961429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70141043..74340126hg38UCSC Ensembl
chr16:70174946..74374024hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384199084
hg194199079
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2919n223
Supporting Variantsnssv18241254
Samples
Known GenesAARS, AP1G1, ATXN1L, C16orf47, CALB2, CHST4, CLEC18C, CMTR2, COG4, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FUK, HCCAT5, HP, HPR, HYDIN, IL34, IST1, LOC100132529, LOC100506060, LOC100506083, LOC100506172, LOC101928035, LOC283922, MARVELD3, MTSS1L, PDPR, PHLPP2, PKD1L3, PMFBP1, PSMD7, SF3B3, SNORA70D, SNORD111, SNORD111B, SNORD71, ST3GAL2, TAT, TXNL4B, VAC14, VAC14-AS1, ZFHX3, ZNF19, ZNF23, ZNF821
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6588358
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer