A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6569954



Internal ID20943025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50962824..58188676hg38UCSC Ensembl
chr8:51875384..59101235hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg387225853
hg197225852
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18278164
Samples
Known GenesATP6V1H, CHCHD7, FAM110B, FAM150A, IMPAD1, LINC00588, LINC00968, LOC100507651, LOC286177, LYN, LYPLA1, MOS, MRPL15, NPBWR1, OPRK1, PCMTD1, PENK, PLAG1, PXDNL, RB1CC1, RGS20, RP1, RPS20, SBF1P1, SDR16C5, SDR16C6P, SNORD54, SOX17, ST18, TCEA1, TGS1, TMEM68, XKR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6569954
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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