A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6579645



Internal ID20952716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70160585..74332574hg38UCSC Ensembl
chr16:70194488..74366472hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384171990
hg194171985
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2919n223
Supporting Variantsnssv18241257
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)nsv6579645
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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