A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6590463



Internal ID20963534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70122828..74358379hg38UCSC Ensembl
chr16:70156731..74392277hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384235552
hg194235547
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2919n223
Supporting Variantsnssv18241248
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)nsv6590463
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