A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18241248



Internal ID20808288
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 StatusS
Merged Variantsnsv6590463
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
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18241248
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00017


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