A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6568194



Internal ID20941265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125171897..132850837hg38UCSC Ensembl
chr5:124507590..132186529hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg387678941
hg197678940
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18266260
Samples
Known GenesACSL6, ADAMTS19, ALDH7A1, C5orf48, C5orf56, C5orf63, CCNI2, CDC42SE2, CHSY3, CSF2, CTXN3, FBN2, FLJ33630, FNIP1, GRAMD3, HINT1, IL13, IL3, IL4, IL5, IRF1, ISOC1, KIAA1024L, KIF3A, LMNB1, LOC101927488, LOC102546228, LOC553103, LOC728637, LYRM7, MARCH3, MEGF10, MIR3936, MIR4460, MIR4633, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PRRC1, RAD50, RAPGEF6, SEPT8, SHROOM1, SLC12A2, SLC22A4, SLC22A5, SLC27A6, SOWAHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6568194
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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