A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707172



Internal ID130838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70117371..74396141hg38UCSC Ensembl
chr16:70151274..74430039hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384278771
hg194278766
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557110
Supporting Variants
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
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707172
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.537153


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