A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18277486



Internal ID20844526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22900235..30247902hg38UCSC Ensembl
chr8:22757748..30105418hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387347668
hg197347671
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6565031
Supporting Variants
Samples
Known GenesADAM28, ADAM7, ADAMDEC1, ADRA1A, BNIP3L, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, DCTN6, DOCK5, DPYSL2, DUSP4, EBF2, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FAM183CP, FBXO16, FZD3, GNRH1, HMBOX1, INTS9, KCTD9, KIF13B, LEPROTL1, LINC00589, LOC100507156, LOC254896, LOC286059, LOC389641, LOXL2, MBOAT4, MIR3148, MIR3622A, MIR3622B, MIR4287, MIR4288, MIR548O2, MIR6841, MIR6842, MIR6843, MIR6876, NEFL, NEFM, NKX2-6, NKX3-1, NUGGC, PBK, PEBP4, PNMA2, PNOC, PPP2R2A, PTK2B, R3HCC1, RHOBTB2, SCARA3, SCARA5, SLC25A37, STC1, STMN4, TMEM66, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, ZNF395
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18277486
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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