A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6556222



Internal ID20929293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108711905..115978756hg38UCSC Ensembl
chr4:109633061..116899912hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg387266852
hg197266852
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5405n223
Supporting Variantsnssv18262967
Samples
Known GenesALPK1, ANK2, AP1AR, ARSJ, C4orf21, C4orf32, CAMK2D, CASP6, CCDC109B, CFI, COL25A1, EGF, ELOVL6, ENPEP, ETNPPL, GAR1, LARP7, LRIT3, MIR1243, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR577, MIR8082, NDST4, NEUROG2, PITX2, PLA2G12A, RRH, SEC24B, SEC24B-AS1, TIFA, UGT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6556222
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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