A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280784



Internal ID20490002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70117240..74364078hg38UCSC Ensembl
chr16:70151143..74397976hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384246839
hg194246834
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759749
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
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280784
Frequency
Sample Size25
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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